Le Diko - en:young adult onset

Le Diko - en:young adult onset

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en:young adult onset

Nom

Informations lexicales

Langue:anglais

Associations d'idées

706

en:variable age at onset (late childhood to adult)

•

en:symptoms precipitated by stress, exertion, fatigue, alcohol

•

en:some patients may not present until adulthood

•

en:some patients may lose independent ambulation

•

en:some patients may show a favorable response to oral coenzyme q10 supplementation

•

en:symptoms precipitated by alcohol, caffeine, fatigue, stress, exertion, ovulation, menstruation

•

en:sensorineural hearing loss may be presenting feature

•

en:some patients show improvement during summer or with fever

•

en:prevalence of true hypoprothrombinemia is 1 in 2 million

•

en:severe ambulatory restriction

•

en:precipitated by fever

•

en:hearing loss affects all frequencies

•

en:premature aging syndrome

•

en:six patients have been reported (as of october 2011)

•

en:some patients with advanced loss of vision have normal eog

•

en:two unrelated consanguineous families (saudi arabian and israeli palestinian) have been reported (last curated february 2014)

•

en:precipitated by fatigue or alcohol

•

en:some patients show a favorable response to sulfonylurea treatment

•

en:prevalent among the amish

•

en:progressive clinical course with onset in childhood

•

en:presence of additional features is variable

•

en:prevalence estimated at 1 in 50,000

•

en:short survival (less than 10 years after onset)

•

en:some patients may present with myopathic features

•

en:multiple prenatal fractures

•

en:virtually all patients with this condition are female

•

en:usually symptomatic in adulthood with history of weakness since infancy or childhood

•

en:congenital abnormality

•

anomalie congénitale

•

en:prelingual onset

•

en:small placenta

•

en:variable age of onset (range 4 months to 45 years)

•

en:sudden death within first days of life

•

en:presentation in children - diarrhea, constipation (rarely), short stature, pubertal delay, rickets, iron and folate deficiency with anemia

•

en:young ▷?

•

en:poor response to l-dopa

•

en:variable age of onset (7-59 years)

•

en:variable features present

•

en:variable age at onset, first to second decades

•

en:recurrent bacterial infection

•

en:subset of patients have leigh syndrome (256000)

•

en:slight male predominance (3:2)

•

en:visual impairment is present at birth and is progressive

•

en:phenotypic variation (may affect language expression, reception, and/or articulation)

•

en:some patients have resolution of symptoms in first year of life

•

en:variable expression

•

en:precipitated by general anesthesia

•

en:subtype 3a comprises myoclonus and dementia

•

en:possible x-linked dominant inheritance

•

•

en:some patients never gain ambulation or become wheelchair-bound

•

en:variable phenotype, particularly with regard to cortical malformations

•

en:two unrelated families have been reported (last curated may 2013)

•

en:skeletal and facial features are variable

•

en:death in infancy in 2 patients

•

en:early death often occurs from cardiac failure or infection

•

en:death may occur in infancy

•

en:death in infancy secondary to respiratory insufficiency/pneumonia

•

en:death before age 40

•

en:clinical presentation varies from asymptomatic to fulminant course

•

en:associated with hemodialysis

•

en:color vision defects may not be part of the phenotype

•

en:dysmorphic facial features reported in 1 family

•

en:dwarfism not detectable at birth

•

en:deafness tends to occur before other neurologic signs, except in patients with very early onset

•

en:diarrhea worsens in parallel with increases in severity of skin disease

•

en:clonidine can alleviate hyperhidrosis

•

en:death in third or fourth decades, usually due to respiratory infection

•

en:both autosomal dominant and autosomal recessive inheritance has been described

•

en:death in utero or in early infancy is common

•

en:discordant phenotype among monozygotic twins has been reported

•

en:death often in the teenage years

•

en:death due to respiratory insufficiency within minutes to hours after birth

•

en:early death (in some patients)

•

en:blistering may worsen during the summer

•

en:cold-induced sweating develops late in the first decade

•

en:distinct from pseudopili annulati (613241)

•

en:dramatic improvement with proper treatment

•

en:excessive skin picking of sores

•

en:death usually in newborn period or infancy

•

en:episodes tend to decrease with age

•

en:episodes brought on by fasting or infection

•

en:early death occurs in affected infants (days to months after disease onset)

•

en:death due to rapidly progressive pulmonary fibrosis in infancy

•

en:early onset (9-48 years, but reported up to 68 years)

•

en:cutaneous symptoms induced by cold exposure or cooling

•

en:diagnosis requires 3 major features (a positive family history is also considered a major feature) and at least 3 minor features

•

en:death in early childhood may occur

•

en:chronic course with exacerbations and remissions

•

en:clinically resembles essential tremor, but not responsive to beta-adrenergic blockers

•

en:diurnal fluctuation

•

en:age of onset/diagnosis 12-35 years

•

en:bleeding is usually delayed-onset after challenge

•

en:death in the first years of life

•

en:chelation therapy can result in clinical improvement

•

en:approximately 40% of cases are inherited or new germline mutations

•

en:caused by somatic mutations

•

en:blisters are precipitated by minor skin trauma

•

en:carrier females show no phenotypic abnormalities, but may have learning difficulties

•

en:classic severe form shows onset at 2 to 3 months of age

•

en:average disease duration of 7 years

•

en:average age at onset between 40 and 50 years

•

en:attacks more common in women

•

en:child often can sit unsupported but never ambulates

•

en:adult onset from second to seventh decade

•

en:ataxia is nonprogressive

•

en:all cases sporadic (18 males, 7 females)

•

en:age at onset from 3 to 51 years (mean 19.2 years)

•

en:may occur in adults (also in pregnancy)

•

en:attacks precipitated by hypokalemia, administration of glucose or insulin, heavy carbohydrate consumption, stress, fatigue, rest after exercise

•

en:may be triggered by minor head trauma

•

en:average onset 6-10 months (range 3-24)

•

en:adult onset (wide range of age)

•

en:average age at diagnosis 17.8 years (range 2-35 years)

•

en:approximately 70-80% of cases are de novo and sporadic

•

en:boys are more often affected than girls (3:2)

•

en:childhood or adolescent onset (usually less than 25 years)

•

en:clinical spectrum in males ranges from lethal neonatal onset to milder forms with first recognized episode in late childhood or even in adulthood

•

en:death from pneumonia

•

en:cone-shaped epiphyses appear in early childhood and disappear with premature fusion of growth plate before puberty

•

en:childhood onset

•

en:coloboma is associated with larger microdeletion (490kb) of 11q13

•

en:death in majority of infants soon after birth

•

en:average onset of seizures 6 months (range 3-12)

•

en:autosomal recessive inheritance with earlier onset has been reported in 3 patients

•

en:caused by inheritance of the mutation on the paternal allele (imprinting)

•

en:contractures other than plantar are less common and less severe

•

en:death in childhood may occur due to end-stage renal disease

•

en:clinical and biochemical abnormalities disappear with age

•

en:death in perinatal period

•

en:congenital onset

•

en:approximately 50% of patients have situs inversus

•

en:early adult onset has been reported

•

en:divided into isolated cases (75-80%), familial (10-15%), and syndromal (1-5%)

•

en:death secondary to respiratory infection or failure before age 2 years

•

en:highly variable phenotype including fluctuating phenotype ('fluctuans') or severe phenotype ('permanens')

•

en:heterozygous mutation carriers may have late-onset of mild symptoms

•

en:highly variable severity, ranging from death in utero to survival to adulthood with normal intelligence

•

en:genetic heterogeneity (see 609192)

•

en:highly variable phenotype that includes several subtypes (see, e.g., 607485, 601104)

•

en:incidence 1/100,000 - 1/200,000 live births

•

en:highly variable expression

•

en:highly variable phenotype with respect to facial dysmorphism and neurologic features

•

en:eye involvement begins at birth, neurologic involvement begins later

•

en:hip joint replacement often necessary

•

en:hearing loss ma be fluctuating or progressive

•

en:heterozygous female carriers may manifest symptoms

•

en:highly variable phenotype, even within families

•

en:hematuria may become apparent after respiratory infections (synpharyngitic)

•

en:hepatomegaly improves with age and disappears around puberty

•

en:female carriers may have asymptomatic hypercalciuria or hypophosphatemia only

•

en:hands clenched at birth but loosen in infancy

•

en:highly variable phenotype, ranging from asymptomatic to severe

•

en:highly penetrant, but low morbidity

•

en:heterozygous carriers have blue sclerae, small joint hypermobility, and mild thinning of cornea

•

en:frequency of infections decreases after 3 years of age

•

en:genetic heterogeneity (see 161800)

•

en:heterozygotes may exhibit syndromic manifestations

•

en:hepatic failure develops in first months of life

•

en:death usually in infancy due to respiratory failure

•

en:episodes may be triggered by exercise, emotional stress, head trauma, angiography, lack of sleep, heat

•

en:good response to steroid treatment

•

en:full recovery after attacks

•

en:highly variable phenotype and severity

•

en:hyperthermia in early childhood

•

en:gonadal and somatic mosaicism reported in parent

•

en:heterozygous females may exhibit variable degrees of enzyme deficiency

•

en:female carriers may be affected

•

en:drug-induced dyskinesias occur in a subset of patients

•

en:episode frequency is monthly to yearly, and decreases with age

•

en:early death due to sepsis

•

en:early death in males

•

en:hyperkeratosis often present at birth but may appear later

•

en:four separate types - (1) severe perinatal ('lethal') form, (2) severe infantile form, (3) childhood form, and (4) adult form

•

en:glucocorticoid deficiency occurs in mid-childhood

•

en:estimated incidence of 1-2 in 10,000

•

en:diagnosis within the first 3 months of life

•

en:early death may occur

•

en:electromyography may be normal in infancy, but shows myopathic pattern in adolescence and adulthood

•

en:episodes last from several hours to days

•

en:diagnosis made when at least 2/3 features present (optic nerve hypoplasia, hypopituitarism with pituitary hypoplasia, midline forebrain defects)

•

en:end-stage renal failure may occur

•

en:evidence of systemic iron overload seen in 1 family

•

en:deposits may recur in graft after corneal transplantation

•

en:fatal without lung transplant

•

en:excessive postsurgical blood loss

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en:death usually in first year of life

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en:early death (usually by 3 years of age)

•

en:death usually in childhood

•

en:death often occurs in childhood

•

en:death secondary to renal failure, cardiac or cerebrovascular disease

•

en:adrenal insufficiency usually develops later (first decade)

•

en:episodes occur 30 minutes to 3 hours after exposure to cold

•

en:estimated frequence 1/3000 to 1/5000

•

en:familial occurrence is rare

•

en:great variation in extent of hypertrophy in mutation-positive individuals

•

en:earlier onset is associated with a more severe disorder

•

en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930)

•

en:few familial (parent offspring) cases reported

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en:facial palsy often transient in infancy

•

en:compound heterozygosity common

•

en:fatal in first few months of life in most cases

•

en:features are variable

•

en:favorable response to ephedrine treatment

•

en:favorable response to 3,4-diaminopyridine

•

en:episodes are triggered by cold exposure

•

en:facial dysmorphic features are mild

•

en:estimated frequency 1/2000-1/4000 individuals

•

en:autosomal recessive form (277720) has also been described

•

en:based on report of 2 sibs in 2008

•

en:condition is experienced by patients as harmless and is often discovered incidentally

•

en:favorable response to ursodeoxycholic acid treatment

•

en:elevated body temperatures to 42 degrees celsius

•

en:females often show milder phenotype with later onset of cardiac symptoms

•

en:autosomal recessive disorder tends to be more severe

•

en:age at onset 14 to 44 years

•

en:a milder form has also been reported

•

en:three fetuses from 1 family have been reported (last curated august 2015)

•

en:quinidine therapy may be effective

•

en:two families with confirmed adra2b mutations have been reported (last curated june 2015)

•

en:pigmentation not always butterfly-shaped

•

en:therapy is placement of implantable cardioverter defibrillator (icd)

•

en:symptoms present from infancy or early childhood

•

en:patients may die in infancy or childhood due to respiratory failure

•

en:two unrelated families have been reported (last curated june 2015)

•

en:relatively mild phenotype

•

en:some patients have onset in second decade of life

•

en:affected individuals are born with normal-appearing skin and develop scaling a few days after birth

•

en:onset in first decade (as early as infancy in some)

•

en:patient b is 1 child born of unrelated scandinavian parents with a more severe phenotype with onset in the neonatal period

•

en:highly variable severity and features

•

en:ketogenic diet may be effective

•

en:exacerbated by stress

•

en:patients with homozygous, compound heterozygous, and heterozygous mutation have been reported

•

en:opportunistic infection

•

en:recurrent episodes of liver failure during intercurrent infections

•

en:onset of overgrowth in the first year of life (in most cases)

•

en:weakness during pregnancy in some affected females has been reported

•

en:both mutations occurred de novo

•

en:first fracture in early childhood

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en:no extraocular findings

•

en:incomplete penetrance in some families

•

en:high frequency hearing loss progresses to include all frequencies

•

en:family a had a severe multisystem disorder resulting in death before age 2 years

•

en:initial hearing loss is mild progressing to severe or profound by the seventh decade

•

en:intrafamilial variability in number of missing teeth

•

en:two sibs have been reported (last curated november 2015)

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en:marked intrafamilial variability of clinical features

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en:two unrelated families have been reported (last curated february 2016)

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en:based on one sib pair each in their seventies

•

en:seizures remit spontaneously by age 5 years

•

en:skewed x-inactivation, with complete skewing in some individuals

•

en:two sibs each from unrelated saudi arabian families reported (last curated may 2014)

•

en:inflammatory bowel disease may develop in childhood or adolescence

•

en:lethal in utero or perinatal lethal

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en:most patients become wheelchair-bound in the second or third decades

•

en:based on report of 2 individuals (last curated november 2013)

•

en:intrafamilial phenotypic variability ranging from transient or permanent neonatal diabetes (610582) to mody (616329) to impaired fasting glucose or impaired glucose tolerance

•

en:neonatal sepsis

•

en:neonatal death

•

en:pyogenic arthritis, pyoderma gangrenosum and acne

•

en:likely allelic to sc phocomelia syndrome (269000)

•

en:polyhydramnios

•

en:presence of severe midfacial and limb defects and birth length less than 37cm associated with stillborn or early infant death

•

en:tumor suppressor gene

•

en:congenital anomaly

•

en:sexual infantilism

•

en:twenty-five percent of affected babies are stillborn

•

en:four unrelated patients have been reported (last curated june 2014)

•

en:all reported mutations have occurred de novo

•

en:associated with iron deficiency anemia

•

en:onset in early infancy

•

en:incidence of 1 in 10,000 live births

•

en:increased incidence in asian countries (e.g., 1.46 per 10,000 live births in taiwan)

•

en:clinically 'silent' nystagmus evident on eye movement recording in carrier females

•

en:20% die before age one (usually secondary to renal or laryngeal defects)

•

en:miscellaneous ▷?

•

en:cardiac examination is usually unremarkable

•

en:four unrelated families have been reported (last curated august 2015)

•

en:based on one large dutch family (last curated august 2015)

•

en:hearing loss occurs later if at all

•

en:late-adult onset

•

en:genetic heterogeneity (see mcc1 deficiency 210200)

•

en:affected individuals have a relatively mild ichthyosis phenotype

•

en:age of onset between 5 and 10 years of age

•

en:carrier females may have mild intellectual disability

•

en:age of onset varies ranging from 3 weeks to 22 years

•

en:no situs inversus

•

en:based on a report of 4 patients from 2 consanguineous families (last curated august 2015)

•

en:based on one jordanian family (last curated august 2015)

•

en:affected individuals may have more than 1 cardiac structural defect, or none at all

•

en:asymptomatic patients may show changes on sd-oct

•

en:autoimmune features are variable

•

en:based on report of 4 patients from 1 family (last curated july 2015)

•

en:three unrelated patients have been reported (last curated july 2015)

•

en:one patient reported (last curated november 2012)

•

en:two unrelated families have been reported (last curated october 2015)

•

en:onset in first decade after normal early development

•

en:anemia is responsive to corticosteroid treatment

•

en:mean age at onset 33 years (range 20-60)

•

en:allelic disorder to potassium-aggravated myotonia (608390)

•

en:age at diagnosis 24 +/- 18 years for dominant disease

•

en:allelic disorder to early-onset sarcoidosis (609464)

•

en:incidence 8/1,000 newborns

•

en:age of onset of distal lower limb weakness 8-16 years

•

en:age of onset usually 1 week to 2 years

•

en:mild asymmetric regional disease (e.g. 180380.0029)

•

en:mean age of onset in third decade

•

en:allelic to hypoparathyroidism-retardation-dysmorphism syndrome (241410)

•

en:adult onset of neurologic symptoms has been reported in 1 family

•

en:may not be clinically manifest until middle life

•

en:50% of cases represent new mutations associated with advanced paternal age

•

en:liver symptoms improve with age and disappear after puberty

•

en:medial onset of end stage renal disease 13 years

•

en:infantile form accounts for 90% of cases

•

en:abnormal sensitivity to therapeutic radiation

•

en:allelic to hydropic and prenatally lethal chondrodystrophy (215140)

•

en:age of onset ranges from 1 to 47 years

•

en:mean age at onset of cerebellar ataxia is 52.8 years

•

en:mean age at onset of hypoglycemia may be delayed (median, 9 months, diagnosis sometimes made in adulthood)

•

en:adult onset (20 to 50 years)

•

en:associated with smoking

•

en:associated with increased frequency of autoimmune diseases

•

en:all features are unilateral

•

en:allelic to diastrophic dysplasia (222600), achondrogenesis, type 1b (600972), and multiple epiphyseal dysplasia, type 4 (226900)

•

en:adult onset has been reported

•

en:approximately one-third of patients eventually lose outer hair cell function and have profound sensorineural deafness (after 10 to 20 years)

•

en:allelic to metaphyseal dysplasia without hypotrichosis (250460)

•

en:age at onset 8 to 55 years (mean 40 years)

•

en:approximately half of the mutations are de novo

•

en:allelic disorder to choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress (610978), which is a more severe disorder

•

en:allelic disorder to benign hereditary chorea (118700), which is less severe

•

en:gastric suction pump, home model, portable or stationary, electric

•

en:associated with advanced paternal age

•

•

en:aortic dissection may occur in second decade of life

•

en:about 20% of female mutation carriers may show mild muscle weakness

•

en:absence seizures show onset between 3.5 and 4 years

•

en:manifestations continue to appear until 5th decade

•

en:onset of symptoms in early childhood in most patients

•

en:males tend to have earlier onset than females

•

en:two unrelated patients have been reported (last curated august 2015)

•

en:one family and 2 unrelated patients have been reported (last curated december 2015)

•

en:two sibs from a consanguineous syrian family have been reported (last curated july 2015)

•

en:three unrelated patients have been reported (last curated december 2015)

•

en:three unrelated consanguineous families (libyan, egyptian, and pakistani origin) have been reported (last curated july 2015)

•

en:penetrance estimated to be 80%

•

en:onset of night blindness varies among patients from early childhood to mid thirties

•

en:retinal holes were present in an asymptomatic female carrier

•

en:surviving males are postzygotic mosaic for ebp mutations

•

en:can also be caused by contiguous gene deletion on chromosome 22q11.2

•

en:onset of visual dysfunction in early childhood

•

en:patient b presented with asymptomatic increased serum creatine kinase and no clinical muscle symptoms

•

en:nine patients have been reported (last curated july 2015)

•

en:metabolic encephalomyopathic crises often triggered by infection

•

en:clinical variability, both pure and complicated forms

•

en:precipitation by pregnancy

•

en:phenotype is due to hypomorphic nonmosaic mutation in the ebp gene

•

en:increased susceptibility to multiple carcinomas

•

en:(3) adult nonnephropathic (219750)

•

en:liveborn often die within first week of life

•

en:fractures can occur in utero, during labor and delivery, or in newborn period

•

en:may result in sudden death

•

en:hearing loss occurs in late childhood

•

en:highly variable frequency and duration of episodes

•

en:hand and foot lesions can severely limit dexterity (due to flexion contractures) and mobility (due to painful fissures)

•

en:infantile, late-infantile, juvenile, and adult onset have been reported

•

en:late-adult onset has been reported

•

en:majority of children die before age 2

•

en:treatment with sulfonylurea can be effective

•

en:many adults with typical form remain ambulatory

•

en:median survival is > 50 years

•

en:two unrelated consanguineous families have been reported (last curated july 2015)

•

en:three unrelated families have been reported (last curated october 2015)

•

en:disease shows slow progression

•

en:two sisters born of consanguineous palestinian parents have been reported (last curated september 2015)

•

en:one patient has been reported (last curated august 2015)

•

en:variable severity of clinical and radiologic manifestations

•

en:hair regrowth may occur later in life

•

en:heterozygous females more mildly affected than hemizygous males

•

en:heterozygotes may also show increased susceptibility to toxic effects of thiopurine treatment

•

en:marked heterogeneity

•

en:female carriers may show intermittent hematuria

•

en:may have seasonal variance in severity

•

en:male to female ratio 4:1

•

en:mean age of onset 20.6 years

•

en:mean age at onset 57-60 years

•

en:loss of tumor suppressor gene

•

en:maternal anticipation bias

•

en:majority of cases are sporadic, often in tall, thin men

•

en:mean age at onset 10.6 years

•

en:many patients become wheelchair-bound

•

en:liver size returns to normal after 3 months to 3 years

•

en:high frequencies affected before low frequencies

•

en:lifetime risk of ovarian cancer in mutation carriers is 10 to 20%

•

en:may fade with age

•

en:mean age of onset 50 to 52 years

•

en:may be triggered by medications, including antineoplastic agents, immunotherapeutic agents, and antiplatelet agents

•

en:may be precipitated by minor illness (e.g., viral infection, fever)

•

en:mean age of onset about 62 years (45-79 years)

•

en:incidence of 1 in 25,000 livebirths

•

en:mean age at onset 28 years

•

en:mean age at onset 35 years (range 20-60)

•

en:mean age of onset 22 years (range 5-54)

•

en:mean age at onset is 13 years (range 6 to 43)

•

en:madelung deformity more frequent and more severe in females

•

en:mean age at diagnosis 8.8 years (range 0.2-23 years)

•

en:majority of cases (95%) are sporadic

•

en:may result in death in neonatal period or early childhood

•

en:many patients require cardiac pacemakers

•

en:mean age of onset 16 to 19 years

•

en:joint symptoms begin in third or fourth decade

•

en:highly variable clinical phenotype

•

en:marked phenotypic variability, even within an individual

•

en:may manifest as late-onset 'parkinsonian' phenotype without severe ataxic features

•

en:mean age at onset of proximal muscle weakness, 31 years

•

en:median age at onset of puberty is 5.75 years in affected girls and 8.1 years in affected boys

•

en:male-to-female ratio, 1.8 to 1

•

en:many cases are asymptomatic

•

en:medullary thyroid cancer is aggressive and can occur in childhood

•

en:mean age of onset 30 years (range 25-42)

•

en:increased sensitivity to valproic acid toxicity

•

en:may show good response to levodopa

•

en:major fluid shifts may occur in severe cases

•

en:mean age of onset 35-40 years

•

en:median age of diagnosis is 28 years

•

en:mean age at onset 32 years

•

en:long headache duration (greater than 12 hours)

•

en:mean survival 5 months

•

en:marked variation in severity - severe early onset disease (neonatal period) and milder juvenile disease (onset 8-13 years)

•

en:mean age at onset of bone fractures, 24 years

•

en:majority are isolated cases

•

en:later onset can also occur (up to age 17 years)

•

en:incidence worldwide of 1 in 30,000 to 50,000

•

en:lack of treatment results in early death

•

en:incidence of 1 in 3,500 boys

•

en:may be lethal if untreated

•

en:lower limb weakness is presenting feature

•

en:incidence 1 in 8,000 live births

•

en:marked clinical variability within families

•

en:maternal imprinting

•

en:milder form with onset in childhood, absence seizures, and learning difficulties

•

en:median age at diagnosis, 59 years

•

en:increased risk of developing early-onset aggressive cancers

•

en:mean age at onset 46.5 years (range 19-64)

•

en:median survival 5.7 years

•

en:high recurrence rate

•

en:fractures and dental caries and premature secondary tooth loss occur in adulthood

•

en:many features are present only in an untreated patient

•

en:majority of cases sporadic

•

en:management of homocystinuria includes low methionine, cystine supplemented diet for pyridoxine nonresponders and pyridoxine supplementation for pyridoxine responders

•

en:mean age of presentation of renal cancer is 50 years, but earlier onset has been reported

•

en:lesions are present at birth or become apparent in infancy

•

en:length of attack, 3 to 7 days

•

en:majority of children die between 6 months and 5 yrs

•

en:median age of onset of nail dystrophy - 7 years (range 1-6 years)

•

en:mean age of onset 31 years (range 5-60)

•

en:leg pain during childhood

•

en:majority of patients are stillborn or die before 5 months of age

•

en:midline defects

•

en:may progress to other body regions after many years

•

en:median age of onset of pigmentation - 8 years (range 1-15 years)

•

en:congenital malformation

•

tare congénitale

•

en:Stokes-Adams syndrome

•

vice de conformation

•

en:single umbilical artery

•

•

en:congenital defect

•

en:birth defect

•

en:stokes-adams syndrome

•

en:physical defect

•

difformité congénitale

•

pathologie congénitale

•

en:osteoglophonic, derived from greek meaning hollowed out

•

en:occurs in a southern maryland tri-racial inbred population known as the brandywine isolate

•

déformation congénitale

•

maladie congénitale

•

en:no consistent dysmorphic facial phenotype

•

•

en:major physical defect

•

en:later onset of neurologic features

•

létale

•

rétinite pigmentaire liée au sexe récessive 3

•

rétinite pigmentaire, surdité, retard mental, et hypogonadisme

•

rétinite pigmentaire liée à la périphérine (pro219leu)

•

rétinite pigmentaire et retard mental

•

rétinite pigmentaire liée à la périphérine

•

rétinite pigmentaire liée à la PDEB (1-bp del, his557-to-tyr)

•

en:developmental anomaly

•

maladie opportuniste

•

rétinite pigmentaire d'apparition tardive

•

Maladie congénitale

•

anomalie du développement

•

en:fishy body odor

•

en:developmental fault

•

•

létal

•

en:retinitis pigmentosa

•

présentation du siège

•

en:four patients from 3 families have been reported (last curated march 2016)

•

en:one lebanese family has been reported

•

en:itch, pain, and body malodor often

•

en:major cause of death is heart failure

•

en:mean age of diagnosis 40 years

•

en:male predominance of 3:1 to 5:1

•

en:male to female ratio is greater than 3:1

•

mort du nouveau-né

•

mort néonatale

•

en:lethal in males

•

en:many patients lose independent mobility after 25 years

•

en:mesomelia becomes more evident with age

•

en:internal organ rupture may occur

•

en:may be progressive

•

en:median onset of neurologic symptoms is 13 years (range 5 to 28)

•

en:mean age at onset of migraines is 42 years

•

en:marked intrafamilial and interfamilial variability

•

en:loss of independent ambulation in the second decade

•

en:isolated finding

•

en:limb malformations are variable

•

en:may be lethal in the neonatal period

•

en:mean age of onset, 5 years

•

en:four unrelated families have been reported (last curated september 2015)

•

déficience congénitale

•

en:heterozygous females may have situs inversus or other midline defects

•

algie articulaire

•

douleur articulaire

•

douleur dans une articulation

•

en:some patients may show normal early development before seizure onset

•

en:short umbilical cord

•

•

en:onset of lymphedema around puberty

•

en:median age at onset 23 years

•

en:cardiomyopathy is not a feature

•

en:onset usually in childhood or adolescence

•

malformation congénitale

•

septicémie néonatale

•

septicémie du nouveau-né

•

•

en:mean age of diagnosis of renal cell carcinoma is 46 years

•

en:mean age at termination 3 to 4 years

•

en:mean age at onset 66.8 years (range 47-77)

•

en:highly variable organ involvement and severity

•

en:earlier onset is associated with more rapid progression

•

en:independent ambulation is maintained

•

en:incidence 5-50 per million (children) and 10-40 per million (adults)

•

en:intrafamilial variability in degree of hypotrichosis

•

en:later onset of hearing loss in some patients

•

en:increased risk of early death

•

en:late infantile onset 6-24 months

•

en:incidence of 1 in 10,000 to 1 in 20,000

•

en:incomplete penetrance (50%)

•

en:incidence of 1 in 50,000 to 1 in 100,000

•

en:l-dopa-induced dyskinesias

•

en:intrafamilial variability in nail changes

•

en:intracellular accumulation of material can occur in neuronal and nonneuronal cells

•

en:hearing loss is usually severe by age 20 years

•

en:intermediate expression in females

•

en:highly variable age at onset (range 9 to 69 years)

•

en:hyperpigmented patches increased in size and number with age

•

en:fractures decrease after puberty but increase after menopause

•

en:in severe attacks, hemiplegia or coma may last days to weeks

•

en:juvenile rigid early-onset form more often paternally inherited

•

en:incomplete penetrance of optic atrophy

•

en:interfamilial and intrafamilial clinical heterogeneity

•

en:infants show normal size and appearance

•

en:lifelong occurrence

•

en:highly variable phenotype, some adults may be asymptomatic

•

en:later onset (late childhood to young adult) has been reported

•

en:in general, men have more severe disease than women

•

en:in the absence of hydrops, death occurs within 3 months

•

en:infantile onset

•

en:later onset in females

•

en:infections may precipitate ketotic episodes

•

en:increased risk of myeloproliferative disorders in those with somatic mutations

•

en:lesions apparent at birth

•

en:juvenile onset 4 years to puberty

•

en:increased recurrence risk with parental translocation

•

en:hydrops fetalis is associated with death in utero (90%) or within 2 days of birth

•

en:left sided involvement occurs more frequently

•

en:heterozygotes at risk of developing acute, symptomatic methemoglobinemia after exposure to exogenous, methemoglobin-inducing agents

•

en:hairy elbows become apparent in infancy and regress during adolescence

•

en:fatal before age 2 years

•

en:genetic heterogeneity (see 605407)

•

en:incidence of 1 in 57,000

•

en:initial development may appear normal

•

en:icelandic families

•

en:hypothyroidism is less severe in individuals with high dietary iodine intake

•

en:extrapyramidal signs show a favorable response to levodopa

•

en:infants are stillborn or die shortly after birth

•

en:increased susceptibility to malignant hyperthermia

•

en:incidence 1 in 30,000 male births

•

en:diurnal fluctuation of neurologic symptoms

•

en:high risk of recurrence after surgery

•

en:hyperlipidemia may be partially responsive to fat-restricted diet

•

en:incomplete penetrance

•

en:gradual progression

•

en:incidence 1-1.5/1,000 live births

•

en:hearing loss may be congenital or rapidly progressive leading to severe hearing loss by age 3 years

•

en:incidence of 1 in 1.5 million births

•

en:incidence is estimated to be between 1 in 2,000 and 1 in 7,000 live births

•

en:increased paternal age

•

en:high frequency of levodopa-induced dyskinesias

•

en:hypersensitivity to ionizing radiation

•

en:incidence of 1 in 300,000

•

en:incidence of 1 in 100,000 to 125,000 at birth

•

en:intermittent exacerbations

•

en:infantile form has onset within first 6 months of life

•

en:female carriers may be mildly affected

•

en:initially normal rod responses may become significantly reduced at older age

•

en:heterozygote may have elevated serum phosphate and elevated serum 1,25-dihydroxycholecalciferol

•

en:fracture frequency decreased post puberty

•

en:increased aneuploidy in offspring

•

en:heterozygotes exhibit blue sclerae and soft velvety skin

•

en:incidence of 1 in 100,000 births

•

en:however, neonatal seizures, severe mental retardation, distinct dysmorphic features, and mitochondrial dysfunction are unique to 2p21 deletion syndrome (2p21del)

•

en:individuals do not develop erythrocytosis under hypoxic conditions

•

en:inflammatory arthritis may develop in 30% of patients

•

en:homozygotes have more severe disease with earlier onset of thrombosis

•

en:heterozygotes are not affected

•

en:intellectual regression and loss of speech precede the onset of motor retardation by more than 10 years

•

en:feet are unaffected in some patients

•

en:genetic heterogeneity (see 116800 for summary)

•

en:levodopa-induced dyskinesias

•

en:incidence 1 in 15,000-28,000 births

•

en:may be asymptomatic

•

en:late adult onset (after age 55 years)

•

en:maternal oligohydramnios

•

en:mean age at onset 15.2 years

•

•

en:may be fatal in infancy

•

en:many cases due to de novo mutation

•

en:majority of patients die in neonatal period secondary to respiratory insufficiency

•

en:males may be more affected than females

•

en:late-onset, slowly progressing form of retinitis pigmentosa

•

en:males are more severely affected

•

en:majority are stillborn or die in early neonatal period

•

en:lower limb involvement occurs before upper limb involvement

•

en:infants may have acute life-threatening crises

•

en:late-adult onset (usually after age 50 years)

•

en:incidence of 1 in 250,000 births

•

en:male-to-female ratio of 3:2 in childhood cases

•

en:incomplete penetrance (range 13% to 77% by 50 years of age)

•

en:may result in early death from severe diarrhea

•

en:inheritance pattern is unclear

•

en:intrafamilial phenotypic variation may occur

•

en:lesions continue to grow until epiphyseal plate closure

•

en:death in fourth to fifth decade

•

en:majority of patients have normal intelligence

•

en:live born infants die within few hours of birth

•

en:majority of cases are male

•

en:increased male to female ratio (7.5:1)

•

en:left side involvement more frequent than right side involvement

•

en:mean age at onset of dementia is 57 years

•

en:genetic heterogeneity (may be caused by mutation in nuclear-encoded or mitochondrial-encoded genes)

•

en:male patients have more severe disease than female patients

•

en:manifests in infancy (including neonatal lethal) or childhood

•

en:mean age at onset 24 years (range 14 to 33 years)

•

en:juvenile form has onset between 4 and 19 years

•

en:mean age at onset 22 years (range 7 to 50 years)

•

en:males more affected than females (2 to 2.5:1)

•

en:may be due to imprinting defect

•

en:heterozygous carriers exhibit palmoplantar hyperkeratosis (see 148700)

•

en:males are most severely affected, but females can also be affected

•

en:incidence of 1 in 120,000 live births

•

en:incidence of 1 in 5,000 to 1 in 10,000

•

en:less than 20% have onset at 18 years of age or less (dominant and recessive)

•

en:life-threatening infections

•

en:incomplete, but high, penetrance

•

en:incidence of 1 in 39,000

•

en:incomplete penetrance in carrier females

•

en:foot deformities are present in infancy or childhood

•

en:lesions provoked by friction, sun exposure, heat, and injury

•

en:incidence ranges from 1 in 40,000 to 1 in 350,000 births

•

en:incomplete penetrance with 45 to 51 repeats

•

en:lifetime risk of breast cancer in mutation carriers is 60 to 85%

•

en:males carry mutations in the somatic mosaic state

•

en:frequency and severity of symptoms do not worsen with age

•

en:late-adult onset (fifth to sixth decade)

•

en:leakage of fluid ('gusher') if the stapes is disturbed

•

en:immunologic defects are variable

•

en:incidence - 1/16,000 live births

•

•

en:high mortality in infancy and early childhood (in some patients)

•

en:joint laxity decreases with age

•

en:highly variable frequency and severity of attacks

•

en:later onset has been reported

•

en:high pain threshold

•

en:majority of cases diagnosed at age 10-15 years

•

en:majority of cases have been sporadic

•

en:later onset of optic atrophy (mean 19 years, range 5 to 50 years)

•

en:hearing loss progresses to profound deafness

•

en:majority die in neonatal period secondary to respiratory insufficiency

•

en:lesions increase in size and number with age

•

en:later onset may occur

•

en:improvement with age

•

en:intrafamilial variability in severity of hypothyroidism

•

en:lipodystrophic appearance may be mild or not present

•

en:incidence, 1 in 500 heterozygotes, 1 in 1,000,000 homozygotes

•

en:insidious onset

•

en:infantile onset with hepatic involvement

•

en:majority of patients are ambulatory

•

en:high frequency of absence seizures (several per day)

•

en:liver disease may be the most predominant finding

•

en:loss of independent ambulation (in 2 of 3 patients)

•

en:breech presentation

◀

761

anomalie congénitale

•

en:congenital abnormality

•

malformation congénitale

•

en:congenital anomaly

•

en:congenital defect

•

déformation congénitale

•

déficience congénitale

•

septicémie du nouveau-né

•

septicémie néonatale

•

en:neonatal sepsis

•

difformité congénitale

•

maladie congénitale

•

pathologie congénitale

•

•

douleur dans une articulation

•

algie articulaire

•

•

douleur articulaire

•

mort du nouveau-né

•

mort néonatale

•

en:neonatal death

•

en:congenital malformation

•

en:birth defect

•

•

en:polyhydramnios

•

•

tare congénitale

•

vice de conformation

•

en:physical defect

•

en:major physical defect

•

anomalie du développement

•

en:lethal in males

•

en:stokes-adams syndrome

•

en:mean age at onset 66.8 years (range 47-77)

•

en:increased risk of developing early-onset aggressive cancers

•

en:intermittent exacerbations

•

en:attacks more common in women

•

en:Stokes-Adams syndrome

•

en:mean age of diagnosis 40 years

•

en:lower limb involvement occurs before upper limb involvement

•

en:immunologic defects are variable

•

en:later onset (late childhood to young adult) has been reported

•

en:adult onset of neurologic symptoms has been reported in 1 family

•

en:abnormal sensitivity to therapeutic radiation

•

en:two unrelated consanguineous families have been reported (last curated july 2015)

•

en:initial hearing loss is mild progressing to severe or profound by the seventh decade

•

en:based on one sib pair each in their seventies

•

en:some patients show a favorable response to sulfonylurea treatment

•

en:majority of patients have normal intelligence

•

rétinite pigmentaire d'apparition tardive

•

•

en:maternal anticipation bias

•

en:many patients become wheelchair-bound

•

en:one patient reported (last curated november 2012)

•

en:later onset has been reported

•

en:hepatomegaly improves with age and disappears around puberty

•

en:female carriers may have asymptomatic hypercalciuria or hypophosphatemia only

•

en:high frequency hearing loss progresses to include all frequencies

•

en:lethal in utero or perinatal lethal

•

en:subset of patients have leigh syndrome (256000)

•

en:lack of treatment results in early death

•

létal

•

en:mean age of onset, 5 years

•

en:liver size returns to normal after 3 months to 3 years

•

en:late-adult onset

•

en:infants may have acute life-threatening crises

•

en:hyperpigmented patches increased in size and number with age

•

en:favorable response to 3,4-diaminopyridine

•

en:hydrops fetalis is associated with death in utero (90%) or within 2 days of birth

•

en:age of onset varies ranging from 3 weeks to 22 years

•

en:death may occur in infancy

•

en:incidence of 1 in 100,000 to 125,000 at birth

•

en:interfamilial and intrafamilial clinical heterogeneity

•

en:mean age at onset 46.5 years (range 19-64)

•

en:insidious onset

•

en:mean age at onset of proximal muscle weakness, 31 years

•

en:infantile form has onset within first 6 months of life

•

en:female carriers may be affected

•

en:incidence 5-50 per million (children) and 10-40 per million (adults)

•

en:death due to respiratory insufficiency within minutes to hours after birth

•

•

en:may be lethal if untreated

•

en:may show good response to levodopa

•

en:major cause of death is heart failure

•

présentation du siège

•

en:clinically resembles essential tremor, but not responsive to beta-adrenergic blockers

•

en:itch, pain, and body malodor often

•

en:two unrelated families have been reported (last curated may 2013)

•

en:prevalent among the amish

•

en:fatal before age 2 years

•

en:incomplete, but high, penetrance

•

en:life-threatening infections

•

en:in severe attacks, hemiplegia or coma may last days to weeks

•

en:intrafamilial variability in nail changes

•

en:hearing loss is usually severe by age 20 years

•

en:fractures decrease after puberty but increase after menopause

•

en:initially normal rod responses may become significantly reduced at older age

•

en:genetic heterogeneity (see 605407)

•

en:high frequency of absence seizures (several per day)

•

en:episode frequency is monthly to yearly, and decreases with age

•

en:incomplete penetrance

•

en:incidence 8/1,000 newborns

•

en:genetic heterogeneity (see 161800)

•

en:drug-induced dyskinesias occur in a subset of patients

•

en:males carry mutations in the somatic mosaic state

•

en:milder form with onset in childhood, absence seizures, and learning difficulties

•

en:late-adult onset (usually after age 50 years)

•

en:leg pain during childhood

•

en:heterozygous female carriers may manifest symptoms

•

en:fishy body odor

•

Maladie congénitale

•

en:mean age of onset 30 years (range 25-42)

•

en:may result in death in neonatal period or early childhood

•

en:median age of onset of nail dystrophy - 7 years (range 1-6 years)

•

en:majority are isolated cases

•

en:may be fatal in infancy

•

en:lower limb weakness is presenting feature

•

en:median age of onset of pigmentation - 8 years (range 1-15 years)

•

en:highly variable organ involvement and severity

•

en:majority of cases are male

•

en:mean age at onset of dementia is 57 years

•

en:may be due to imprinting defect

•

en:genetic heterogeneity (see 609192)

•

en:recurrent episodes of liver failure during intercurrent infections

•

en:episodes are triggered by cold exposure

•

en:20% die before age one (usually secondary to renal or laryngeal defects)

•

en:three unrelated families have been reported (last curated october 2015)

•

en:disease shows slow progression

•

en:both mutations occurred de novo

•

en:intrafamilial variability in number of missing teeth

•

en:affected individuals have a relatively mild ichthyosis phenotype

•

en:based on a report of 4 patients from 2 consanguineous families (last curated august 2015)

•

en:variable age at onset (late childhood to adult)

•

en:allelic disorder to benign hereditary chorea (118700), which is less severe

•

en:variable age of onset (range 4 months to 45 years)

•

en:variable age at onset, first to second decades

•

en:some patients never gain ambulation or become wheelchair-bound

•

en:usually symptomatic in adulthood with history of weakness since infancy or childhood

•

en:virtually all patients with this condition are female

•

en:early death (usually by 3 years of age)

•

en:allelic disorder to early-onset sarcoidosis (609464)

•

en:four unrelated families have been reported (last curated august 2015)

•

en:associated with increased frequency of autoimmune diseases

•

en:cone-shaped epiphyses appear in early childhood and disappear with premature fusion of growth plate before puberty

•

en:death secondary to respiratory infection or failure before age 2 years

•

en:autosomal recessive form (277720) has also been described

•

en:episodes brought on by fasting or infection

•

en:diurnal fluctuation

•

en:color vision defects may not be part of the phenotype

•

en:age of onset/diagnosis 12-35 years

•

en:death in the first years of life

•

en:clinical spectrum in males ranges from lethal neonatal onset to milder forms with first recognized episode in late childhood or even in adulthood

•

en:death in majority of infants soon after birth

•

en:autosomal recessive inheritance with earlier onset has been reported in 3 patients

•

en:clinical and biochemical abnormalities disappear with age

•

en:approximately 50% of patients have situs inversus

•

en:average onset 6-10 months (range 3-24)

•

en:approximately 40% of cases are inherited or new germline mutations

•

en:classic severe form shows onset at 2 to 3 months of age

•

en:inheritance pattern is unclear

•

en:incidence 1 in 15,000-28,000 births

•

en:juvenile form has onset between 4 and 19 years

•

en:mean age at onset 15.2 years

•

•

en:joint laxity decreases with age

•

en:lesions provoked by friction, sun exposure, heat, and injury

•

en:late-adult onset (fifth to sixth decade)

•

en:incidence of 1 in 300,000

•

en:highly variable phenotype, some adults may be asymptomatic

•

en:increased risk of myeloproliferative disorders in those with somatic mutations

•

en:hairy elbows become apparent in infancy and regress during adolescence

•

en:l-dopa-induced dyskinesias

•

en:intrafamilial variability in degree of hypotrichosis

•

en:intermediate expression in females

•

en:incomplete penetrance of optic atrophy

•

en:may be asymptomatic

•

en:fracture frequency decreased post puberty

•

en:increased male to female ratio (7.5:1)

•

en:osteoglophonic, derived from greek meaning hollowed out

•

en:incidence worldwide of 1 in 30,000 to 50,000

•

en:mean age at onset 10.6 years

•

en:heterozygous females more mildly affected than hemizygous males

•

en:retinitis pigmentosa

•

en:occurs in a southern maryland tri-racial inbred population known as the brandywine isolate

•

en:onset of lymphedema around puberty

•

en:may progress to other body regions after many years

•

en:midline defects

•

en:joint symptoms begin in third or fourth decade

•

en:may be precipitated by minor illness (e.g., viral infection, fever)

•

en:mean survival 5 months

•

en:female carriers may show intermittent hematuria

•

en:fractures and dental caries and premature secondary tooth loss occur in adulthood

•

en:mean age of presentation of renal cancer is 50 years, but earlier onset has been reported

•

en:length of attack, 3 to 7 days

•

en:marked clinical variability within families

•

en:incidence 1 in 8,000 live births

•

en:median age of diagnosis is 28 years

•

en:long headache duration (greater than 12 hours)

•

en:heterozygotes exhibit blue sclerae and soft velvety skin

•

en:median survival is > 50 years

•

en:incidence 1 in 30,000 male births

•

en:ketogenic diet may be effective

•

en:medial onset of end stage renal disease 13 years

•

en:many adults with typical form remain ambulatory

•

en:presence of additional features is variable

•

en:phenotype is due to hypomorphic nonmosaic mutation in the ebp gene

•

en:one family and 2 unrelated patients have been reported (last curated december 2015)

•

en:onset of night blindness varies among patients from early childhood to mid thirties

•

en:two unrelated families have been reported (last curated october 2015)

•

en:age of onset between 5 and 10 years of age

•

en:may not be clinically manifest until middle life

•

en:asymptomatic patients may show changes on sd-oct

•

en:likely allelic to sc phocomelia syndrome (269000)

•

en:tumor suppressor gene

•

en:four unrelated patients have been reported (last curated june 2014)

•

en:sudden death within first days of life

•

en:variable age of onset (7-59 years)

•

en:possible x-linked dominant inheritance

•

en:episodes may be triggered by exercise, emotional stress, head trauma, angiography, lack of sleep, heat

•

en:liver symptoms improve with age and disappear after puberty

•

en:short survival (less than 10 years after onset)

•

en:allelic to hypoparathyroidism-retardation-dysmorphism syndrome (241410)

•

en:divided into isolated cases (75-80%), familial (10-15%), and syndromal (1-5%)

•

en:highly variable phenotype, ranging from asymptomatic to severe

•

en:highly variable phenotype including fluctuating phenotype ('fluctuans') or severe phenotype ('permanens')

•

en:heterozygous carriers have blue sclerae, small joint hypermobility, and mild thinning of cornea

•

en:glucocorticoid deficiency occurs in mid-childhood

•

en:few familial (parent offspring) cases reported

•

en:compound heterozygosity common

•

en:favorable response to ephedrine treatment

•

en:facial palsy often transient in infancy

•

en:condition is experienced by patients as harmless and is often discovered incidentally

•

en:evidence of systemic iron overload seen in 1 family

•

en:deposits may recur in graft after corneal transplantation

•

en:cutaneous symptoms induced by cold exposure or cooling

•

en:chronic course with exacerbations and remissions

•

en:contractures other than plantar are less common and less severe

•

en:adult onset (wide range of age)

•

en:adult onset from second to seventh decade

•

en:age at onset 8 to 55 years (mean 40 years)

•

en:later onset in females

•

en:males may be more affected than females

•

en:majority of cases have been sporadic

•

en:infantile onset with hepatic involvement

•

en:majority of patients are ambulatory

•

en:liver disease may be the most predominant finding

•

en:incidence of 1 in 39,000

•

en:diurnal fluctuation of neurologic symptoms

•

en:left sided involvement occurs more frequently

•

en:independent ambulation is maintained

•

en:incidence of 1 in 50,000 to 1 in 100,000

•

en:however, neonatal seizures, severe mental retardation, distinct dysmorphic features, and mitochondrial dysfunction are unique to 2p21 deletion syndrome (2p21del)

•

en:feet are unaffected in some patients

•

en:genetic heterogeneity (see 116800 for summary)

•

en:extrapyramidal signs show a favorable response to levodopa

•

en:may result in early death from severe diarrhea

•

en:majority of patients die in neonatal period secondary to respiratory insufficiency

•

en:mean age of onset 50 to 52 years

•

en:males are more severely affected

•

en:highly variable clinical phenotype

•

en:hyperkeratosis often present at birth but may appear later

•

en:later onset of neurologic features

•

en:median age at onset 23 years

•

en:internal organ rupture may occur

•

en:mesomelia becomes more evident with age

•

en:mean age at onset 35 years (range 20-60)

•

en:majority of cases (95%) are sporadic

•

en:male-to-female ratio, 1.8 to 1

•

en:mean age at onset 22 years (range 7 to 50 years)

•

en:loss of tumor suppressor gene

•

en:medullary thyroid cancer is aggressive and can occur in childhood

•

en:maternal imprinting

•

en:majority of cases sporadic

•

en:majority of children die between 6 months and 5 yrs

•

en:management of homocystinuria includes low methionine, cystine supplemented diet for pyridoxine nonresponders and pyridoxine supplementation for pyridoxine responders

•

en:increased sensitivity to valproic acid toxicity

•

en:marked variation in severity - severe early onset disease (neonatal period) and milder juvenile disease (onset 8-13 years)

•

en:hair regrowth may occur later in life

•

en:death due to rapidly progressive pulmonary fibrosis in infancy

•

en:heterozygous mutation carriers may have late-onset of mild symptoms

•

en:twenty-five percent of affected babies are stillborn

•

en:males tend to have earlier onset than females

•

en:can also be caused by contiguous gene deletion on chromosome 22q11.2

•

en:metabolic encephalomyopathic crises often triggered by infection

•

en:two sibs have been reported (last curated november 2015)

•

en:symptoms present from infancy or early childhood

•

en:three fetuses from 1 family have been reported (last curated august 2015)

•

en:relatively mild phenotype

•

en:onset in early infancy

•

en:increased susceptibility to multiple carcinomas

•

en:breech presentation

•

en:premature aging syndrome

•

en:great variation in extent of hypertrophy in mutation-positive individuals

•

en:some patients show improvement during summer or with fever

•

en:some patients have resolution of symptoms in first year of life

•

en:prevalence of true hypoprothrombinemia is 1 in 2 million

•

en:precipitated by general anesthesia

•

en:three unrelated patients have been reported (last curated december 2015)

•

en:symptoms precipitated by stress, exertion, fatigue, alcohol

•

en:variable severity of clinical and radiologic manifestations

•

en:blisters are precipitated by minor skin trauma

•

en:late-adult onset has been reported

•

en:facial dysmorphic features are mild

•

en:death often occurs in childhood

•

en:diagnosis requires 3 major features (a positive family history is also considered a major feature) and at least 3 minor features

•

en:death in infancy secondary to respiratory insufficiency/pneumonia

•

en:approximately 70-80% of cases are de novo and sporadic

•

en:death in childhood may occur due to end-stage renal disease

•

en:early death (in some patients)

•

en:average disease duration of 7 years

•

en:may occur in adults (also in pregnancy)

•

en:all features are unilateral

•

en:adult onset has been reported

•

en:allelic disorder to choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress (610978), which is a more severe disorder

•

en:age of onset ranges from 1 to 47 years

•

en:age of onset of distal lower limb weakness 8-16 years

•

en:chelation therapy can result in clinical improvement

•

en:infantile, late-infantile, juvenile, and adult onset have been reported

•

en:heterozygotes are not affected

•

en:less than 20% have onset at 18 years of age or less (dominant and recessive)

•

en:in the absence of hydrops, death occurs within 3 months

•

en:heterozygotes at risk of developing acute, symptomatic methemoglobinemia after exposure to exogenous, methemoglobin-inducing agents

•

en:juvenile rigid early-onset form more often paternally inherited

•

en:incidence of 1 in 10,000 to 1 in 20,000

•

en:highly variable expression

•

en:hypothyroidism is less severe in individuals with high dietary iodine intake

•

en:early death due to sepsis

•

en:highly variable severity, ranging from death in utero to survival to adulthood with normal intelligence

•

en:hearing loss ma be fluctuating or progressive

•

en:features are variable

•

en:frequency and severity of symptoms do not worsen with age

•

en:high mortality in infancy and early childhood (in some patients)

•

en:marked phenotypic variability, even within an individual

•

en:incidence, 1 in 500 heterozygotes, 1 in 1,000,000 homozygotes

•

en:lesions increase in size and number with age

•

en:late adult onset (after age 55 years)

•

en:mean age at onset 24 years (range 14 to 33 years)

•

en:left side involvement more frequent than right side involvement

•

en:live born infants die within few hours of birth

•

en:mean age at onset 32 years

•

en:many cases are asymptomatic

•

en:majority of cases are sporadic, often in tall, thin men

•

en:many patients require cardiac pacemakers

•

en:mean age at onset is 13 years (range 6 to 43)

•

en:isolated finding

•

en:some patients may show normal early development before seizure onset

•

en:elevated body temperatures to 42 degrees celsius

•

en:earlier onset is associated with a more severe disorder

•

•

en:familial occurrence is rare

•

en:intrafamilial phenotypic variability ranging from transient or permanent neonatal diabetes (610582) to mody (616329) to impaired fasting glucose or impaired glucose tolerance

•

en:phenotypic variation (may affect language expression, reception, and/or articulation)

•

en:presentation in children - diarrhea, constipation (rarely), short stature, pubertal delay, rickets, iron and folate deficiency with anemia

•

en:skeletal and facial features are variable

•

en:sensorineural hearing loss may be presenting feature

•

en:visual impairment is present at birth and is progressive

•

en:some patients may lose independent ambulation

•

en:some patients with advanced loss of vision have normal eog

•

en:severe ambulatory restriction

•

en:subtype 3a comprises myoclonus and dementia

•

en:symptoms precipitated by alcohol, caffeine, fatigue, stress, exertion, ovulation, menstruation

•

en:small placenta

•

en:no situs inversus

•

en:affected individuals may have more than 1 cardiac structural defect, or none at all

•

en:affected individuals are born with normal-appearing skin and develop scaling a few days after birth

•

en:estimated incidence of 1-2 in 10,000

•

en:surviving males are postzygotic mosaic for ebp mutations

•

en:blistering may worsen during the summer

•

en:early adult onset has been reported

•

en:dramatic improvement with proper treatment

•

en:death in early childhood may occur

•

en:associated with hemodialysis

•

en:death in utero or in early infancy is common

•

en:both autosomal dominant and autosomal recessive inheritance has been described

•

en:age at onset from 3 to 51 years (mean 19.2 years)

•

en:a milder form has also been reported

•

en:mean age at onset of hypoglycemia may be delayed (median, 9 months, diagnosis sometimes made in adulthood)

•

en:aortic dissection may occur in second decade of life

•

en:about 20% of female mutation carriers may show mild muscle weakness

•

en:mean age at onset 33 years (range 20-60)

•

en:treatment with sulfonylurea can be effective

•

en:female carriers may be mildly affected

•

en:male patients have more severe disease than female patients

•

en:incomplete penetrance (range 13% to 77% by 50 years of age)

•

en:majority die in neonatal period secondary to respiratory insufficiency

•

en:leakage of fluid ('gusher') if the stapes is disturbed

•

en:increased risk of early death

•

en:death secondary to renal failure, cardiac or cerebrovascular disease

•

en:inflammatory arthritis may develop in 30% of patients

•

en:homozygotes have more severe disease with earlier onset of thrombosis

•

en:high frequency of levodopa-induced dyskinesias

•

en:good response to steroid treatment

•

en:highly variable phenotype with respect to facial dysmorphism and neurologic features

•

en:four separate types - (1) severe perinatal ('lethal') form, (2) severe infantile form, (3) childhood form, and (4) adult form

•

en:genetic heterogeneity (may be caused by mutation in nuclear-encoded or mitochondrial-encoded genes)

•

en:manifests in infancy (including neonatal lethal) or childhood

•

en:male to female ratio is greater than 3:1

•

en:lifetime risk of ovarian cancer in mutation carriers is 10 to 20%

•

en:marked heterogeneity

•

en:mean age of onset about 62 years (45-79 years)

•

en:mean age of onset 16 to 19 years

•

en:median age at onset of puberty is 5.75 years in affected girls and 8.1 years in affected boys

•

en:may manifest as late-onset 'parkinsonian' phenotype without severe ataxic features

•

en:limb malformations are variable

•

en:mean age of diagnosis of renal cell carcinoma is 46 years

•

en:one lebanese family has been reported

•

en:no consistent dysmorphic facial phenotype

•

en:developmental fault

•

létale

•

rétinite pigmentaire liée à la périphérine

•

rétinite pigmentaire et retard mental

•

en:episodes tend to decrease with age

•

en:distinct from pseudopili annulati (613241)

•

léthal

•

en:death often in the teenage years

•

en:prelingual onset

•

en:therapy is placement of implantable cardioverter defibrillator (icd)

•

en:patients may die in infancy or childhood due to respiratory failure

•

en:patients with homozygous, compound heterozygous, and heterozygous mutation have been reported

•

en:hearing loss occurs later if at all

•

en:based on one jordanian family (last curated august 2015)

•

en:associated with iron deficiency anemia

•

en:hearing loss affects all frequencies

•

en:weakness during pregnancy in some affected females has been reported

•

en:variable phenotype, particularly with regard to cortical malformations

•

en:slight male predominance (3:2)

•

en:some patients may present with myopathic features

•

en:precipitated by fatigue or alcohol

•

en:precipitated by fever

•

en:deafness tends to occur before other neurologic signs, except in patients with very early onset

•

en:quinidine therapy may be effective

•

en:variable features present

•

en:first fracture in early childhood

•

en:coloboma is associated with larger microdeletion (490kb) of 11q13

•

en:death in infancy in 2 patients

•

en:clinical presentation varies from asymptomatic to fulminant course

•

en:discordant phenotype among monozygotic twins has been reported

•

en:death before age 40

•

en:childhood or adolescent onset (usually less than 25 years)

•

en:death from pneumonia

•

en:all cases sporadic (18 males, 7 females)

•

en:approximately half of the mutations are de novo

•

en:absence seizures show onset between 3.5 and 4 years

•

en:(3) adult nonnephropathic (219750)

•

en:may result in sudden death

•

en:two sisters born of consanguineous palestinian parents have been reported (last curated september 2015)

•

en:patient b presented with asymptomatic increased serum creatine kinase and no clinical muscle symptoms

•

en:onset in first decade after normal early development

•

en:hyperlipidemia may be partially responsive to fat-restricted diet

•

en:intrafamilial phenotypic variation may occur

•

en:increased recurrence risk with parental translocation

•

en:infections may precipitate ketotic episodes

•

en:individuals do not develop erythrocytosis under hypoxic conditions

•

en:hyperthermia in early childhood

•

en:increased susceptibility to malignant hyperthermia

•

en:high risk of recurrence after surgery

•

en:incidence of 1 in 1.5 million births

•

en:death usually in infancy due to respiratory failure

•

en:frequency of infections decreases after 3 years of age

•

en:early death in males

•

en:male-to-female ratio of 3:2 in childhood cases

•

en:incidence of 1 in 120,000 live births

•

en:incidence of 1 in 25,000 livebirths

•

en:majority are stillborn or die in early neonatal period

•

en:mean age at diagnosis 8.8 years (range 0.2-23 years)

•

en:fatal in first few months of life in most cases

•

rétinite pigmentaire liée au sexe récessive 3

•

en:single umbilical artery

•

en:four patients from 3 families have been reported (last curated march 2016)

•

en:cardiomyopathy is not a feature

•

en:may be progressive

•

en:male to female ratio 4:1

•

en:males more affected than females (2 to 2.5:1)

•

en:high frequencies affected before low frequencies

•

en:lesions are present at birth or become apparent in infancy

•

en:mean age of onset 31 years (range 5-60)

•

en:mean age at onset of bone fractures, 24 years

•

en:death in fourth to fifth decade

•

en:lesions continue to grow until epiphyseal plate closure

•

en:highly variable phenotype that includes several subtypes (see, e.g., 607485, 601104)

•

en:diagnosis within the first 3 months of life

•

en:estimated frequency 1/2000-1/4000 individuals

•

en:incomplete penetrance in some families

•

en:variable expression

•

en:some patients may not present until adulthood

•

en:two unrelated consanguineous families (saudi arabian and israeli palestinian) have been reported (last curated february 2014)

•

en:favorable response to ursodeoxycholic acid treatment

•

en:increased incidence in asian countries (e.g., 1.46 per 10,000 live births in taiwan)

•

en:three unrelated patients have been reported (last curated july 2015)

•

en:based on one large dutch family (last curated august 2015)

•

en:most patients become wheelchair-bound in the second or third decades

•

en:patient b is 1 child born of unrelated scandinavian parents with a more severe phenotype with onset in the neonatal period

•

en:pigmentation not always butterfly-shaped

•

en:opportunistic infection

•

en:two sibs each from unrelated saudi arabian families reported (last curated may 2014)

•

en:skewed x-inactivation, with complete skewing in some individuals

•

en:marked intrafamilial variability of clinical features

•

en:six patients have been reported (as of october 2011)

•

en:nine patients have been reported (last curated july 2015)

•

en:death in third or fourth decades, usually due to respiratory infection

•

en:penetrance estimated to be 80%

•

en:females often show milder phenotype with later onset of cardiac symptoms

•

en:excessive postsurgical blood loss

•

en:death usually in newborn period or infancy

•

en:early death occurs in affected infants (days to months after disease onset)

•

en:early death often occurs from cardiac failure or infection

•

en:estimated frequence 1/3000 to 1/5000

•

en:childhood onset

•

en:majority of children die before age 2

•

en:gastric suction pump, home model, portable or stationary, electric

•

en:age of onset usually 1 week to 2 years

•

en:infantile form accounts for 90% of cases

•

en:liveborn often die within first week of life

•

en:anemia is responsive to corticosteroid treatment

•

en:high pain threshold

•

en:loss of independent ambulation (in 2 of 3 patients)

•

en:intrafamilial variability in severity of hypothyroidism

•

en:foot deformities are present in infancy or childhood

•

en:lesions apparent at birth

•

en:levodopa-induced dyskinesias

•

en:lifelong occurrence

•

en:juvenile onset 4 years to puberty

•

en:late infantile onset 6-24 months

•

en:majority of cases diagnosed at age 10-15 years

•

en:later onset of optic atrophy (mean 19 years, range 5 to 50 years)

•

en:marked intrafamilial and interfamilial variability

•

en:many cases due to de novo mutation

•

en:males are most severely affected, but females can also be affected

•

en:increased aneuploidy in offspring

•

en:mean age of onset 35-40 years

•

en:majority of patients are stillborn or die before 5 months of age

•

en:high recurrence rate

•

en:mean age at onset 57-60 years

•

en:mean age of onset 22 years (range 5-54)

•

en:male predominance of 3:1 to 5:1

•

en:onset usually in childhood or adolescence

•

maladie opportuniste

•

rétinite pigmentaire, surdité, retard mental, et hypogonadisme

•

en:highly variable age at onset (range 9 to 69 years)

•

en:later onset can also occur (up to age 17 years)

•

en:icelandic families

•

en:mean age of onset in third decade

•

en:infants are stillborn or die shortly after birth

•

en:poor response to l-dopa

•

en:progressive clinical course with onset in childhood

•

en:multiple prenatal fractures

•

en:clinically 'silent' nystagmus evident on eye movement recording in carrier females

•

en:exacerbated by stress

•

en:two families with confirmed adra2b mutations have been reported (last curated june 2015)

•

en:seizures remit spontaneously by age 5 years

•

en:family a had a severe multisystem disorder resulting in death before age 2 years

•

en:no extraocular findings

•

en:fractures can occur in utero, during labor and delivery, or in newborn period

•

en:miscellaneous ▷?

•

en:allelic to hydropic and prenatally lethal chondrodystrophy (215140)

•

en:hands clenched at birth but loosen in infancy

•

en:adult onset (20 to 50 years)

•

en:highly variable phenotype and severity

•

en:gonadal and somatic mosaicism reported in parent

•

en:heterozygous females may exhibit variable degrees of enzyme deficiency

•

en:highly variable phenotype, even within families

•

en:early death may occur

•

en:diagnosis made when at least 2/3 features present (optic nerve hypoplasia, hypopituitarism with pituitary hypoplasia, midline forebrain defects)

•

en:carrier females show no phenotypic abnormalities, but may have learning difficulties

•

en:cold-induced sweating develops late in the first decade

•

en:autosomal recessive disorder tends to be more severe

•

en:intellectual regression and loss of speech precede the onset of motor retardation by more than 10 years

•

en:increased paternal age

•

en:incidence of 1 in 100,000 births

•

en:hypersensitivity to ionizing radiation

•

en:initial development may appear normal

•

en:incidence 1-1.5/1,000 live births

•

en:hearing loss may be congenital or rapidly progressive leading to severe hearing loss by age 3 years

•

en:electromyography may be normal in infancy, but shows myopathic pattern in adolescence and adulthood

•

en:heterozygotes may also show increased susceptibility to toxic effects of thiopurine treatment

•

en:hepatic failure develops in first months of life

•

en:highly penetrant, but low morbidity

•

en:hip joint replacement often necessary

•

en:based on report of 2 sibs in 2008

•

en:death usually in first year of life

•

en:later onset of hearing loss in some patients

•

en:intracellular accumulation of material can occur in neuronal and nonneuronal cells

•

en:many patients lose independent mobility after 25 years

•

en:infantile onset

•

en:may have seasonal variance in severity

•

en:short umbilical cord

•

en:mean age at termination 3 to 4 years

•

en:may be lethal in the neonatal period

•

en:dysmorphic facial features reported in 1 family

•

en:median onset of neurologic symptoms is 13 years (range 5 to 28)

•

en:mean age at onset of migraines is 42 years

•

en:mean age of onset 20.6 years

•

en:in general, men have more severe disease than women

•

en:heterozygous carriers exhibit palmoplantar hyperkeratosis (see 148700)

•

en:maternal oligohydramnios

•

en:improvement with age

•

en:highly variable frequency and severity of attacks

•

en:lifetime risk of breast cancer in mutation carriers is 60 to 85%

•

en:infants show normal size and appearance

•

en:early onset (9-48 years, but reported up to 68 years)

•

en:fatal without lung transplant

•

en:diarrhea worsens in parallel with increases in severity of skin disease

•

en:two unrelated families have been reported (last curated june 2015)

•

en:three unrelated consanguineous families (libyan, egyptian, and pakistani origin) have been reported (last curated july 2015)

•

en:retinal holes were present in an asymptomatic female carrier

•

en:onset of visual dysfunction in early childhood

•

en:precipitation by pregnancy

•

en:inflammatory bowel disease may develop in childhood or adolescence

•

en:some patients have onset in second decade of life

•

en:onset in first decade (as early as infancy in some)

•

en:two unrelated patients have been reported (last curated august 2015)

•

en:highly variable severity and features

•

en:onset of overgrowth in the first year of life (in most cases)

•

en:based on report of 2 individuals (last curated november 2013)

•

en:carrier females may have mild intellectual disability

•

en:incidence of 1 in 10,000 live births

•

en:clonidine can alleviate hyperhidrosis

•

en:prevalence estimated at 1 in 50,000

•

en:two sibs from a consanguineous syrian family have been reported (last curated july 2015)

•

en:some patients may show a favorable response to oral coenzyme q10 supplementation

•

en:hand and foot lesions can severely limit dexterity (due to flexion contractures) and mobility (due to painful fissures)

•

en:may be triggered by minor head trauma

•

en:average age at diagnosis 17.8 years (range 2-35 years)

•

en:highly variable frequency and duration of episodes

•

en:child often can sit unsupported but never ambulates

•

en:caused by somatic mutations

•

en:bleeding is usually delayed-onset after challenge

•

en:attacks precipitated by hypokalemia, administration of glucose or insulin, heavy carbohydrate consumption, stress, fatigue, rest after exercise

•

en:death in perinatal period

•

en:associated with advanced paternal age

•

en:age at onset 14 to 44 years

•

en:mild asymmetric regional disease (e.g. 180380.0029)

•

en:50% of cases represent new mutations associated with advanced paternal age

•

en:mean age at onset of cerebellar ataxia is 52.8 years

•

en:hearing loss occurs in late childhood

•

en:allelic disorder to potassium-aggravated myotonia (608390)

•

en:manifestations continue to appear until 5th decade

•

en:incomplete penetrance with 45 to 51 repeats

•

en:hearing loss progresses to profound deafness

•

en:later onset may occur

•

en:lipodystrophic appearance may be mild or not present

•

en:incomplete penetrance in carrier females

•

en:incidence ranges from 1 in 40,000 to 1 in 350,000 births

•

en:incomplete penetrance (50%)

•

en:incidence - 1/16,000 live births

•

en:incidence of 1 in 57,000

•

en:heterozygote may have elevated serum phosphate and elevated serum 1,25-dihydroxycholecalciferol

•

en:gradual progression

•

en:incidence is estimated to be between 1 in 2,000 and 1 in 7,000 live births

•

en:earlier onset is associated with more rapid progression

•

en:incidence of 1 in 250,000 births

•

en:heterozygotes may exhibit syndromic manifestations

•

en:incidence of 1 in 5,000 to 1 in 10,000

•

en:may fade with age

•

en:late-onset, slowly progressing form of retinitis pigmentosa

•

en:loss of independent ambulation in the second decade

•

en:incidence 1/100,000 - 1/200,000 live births

•

rétinite pigmentaire liée à la périphérine (pro219leu)

•

rétinite pigmentaire liée à la PDEB (1-bp del, his557-to-tyr)

•

en:developmental anomaly

•

en:four unrelated families have been reported (last curated september 2015)

•

en:heterozygous females may have situs inversus or other midline defects

•

en:madelung deformity more frequent and more severe in females

•

en:incidence of 1 in 3,500 boys

•

en:mean age at onset 28 years

•

en:may be triggered by medications, including antineoplastic agents, immunotherapeutic agents, and antiplatelet agents

•

en:median age at diagnosis, 59 years

•

en:median survival 5.7 years

•

en:many features are present only in an untreated patient

•

en:major fluid shifts may occur in severe cases

•

en:full recovery after attacks

•

en:age at diagnosis 24 +/- 18 years for dominant disease

•

en:eye involvement begins at birth, neurologic involvement begins later

•

en:genetic heterogeneity (see mcc1 deficiency 210200)

•

•

en:one patient has been reported (last curated august 2015)

•

en:hematuria may become apparent after respiratory infections (synpharyngitic)

•

en:onset of symptoms in early childhood in most patients

•

en:two unrelated families have been reported (last curated february 2016)

•

en:cardiac examination is usually unremarkable

•

en:autoimmune features are variable

•

en:approximately one-third of patients eventually lose outer hair cell function and have profound sensorineural deafness (after 10 to 20 years)

•

en:based on report of 4 patients from 1 family (last curated july 2015)

•

en:pyogenic arthritis, pyoderma gangrenosum and acne

•

en:presence of severe midfacial and limb defects and birth length less than 37cm associated with stillborn or early infant death

•

en:sexual infantilism

•

en:all reported mutations have occurred de novo

•

en:recurrent bacterial infection

•

en:allelic to metaphyseal dysplasia without hypotrichosis (250460)

•

en:clinical variability, both pure and complicated forms

•

en:allelic to diastrophic dysplasia (222600), achondrogenesis, type 1b (600972), and multiple epiphyseal dysplasia, type 4 (226900)

•

en:excessive skin picking of sores

•

en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930)

•

en:episodes last from several hours to days

•

en:associated with smoking

•

en:death usually in childhood

•

en:adrenal insufficiency usually develops later (first decade)

•

en:episodes occur 30 minutes to 3 hours after exposure to cold

•

en:end-stage renal failure may occur

•

en:dwarfism not detectable at birth

•

en:boys are more often affected than girls (3:2)

•

en:caused by inheritance of the mutation on the paternal allele (imprinting)

•

en:congenital onset

•

en:average onset of seizures 6 months (range 3-12)

•

en:average age at onset between 40 and 50 years

•

en:ataxia is nonprogressive

•

une anomalie congénitale

•

en:polyhydramnion

•

•

rétinite pigmentaire sénile

•

rétinite pigmentaire liée à la rhodopsine

•

rétinopathie pigmentaire

•

rétinite pigmentaire

•

•

Douleur articulaire

•

Malformation congénitale

•

malentendant (enfant)

•

•

•

Hyde (prurigo nodulaire de)

•

atrophie musculaire, ataxie, rétinite pigmentaire et diabète sucré

•

•

quadriplégie spastique, rétinite pigmentaire et retard mental

•

en:hypoacousic child

•

•

en:cacomorphosis

•

rétinite pigmentaire (classification de Fishman)

•

polyglucosanes (neuropathie à )

•

•

hydrencéphalocèle

•

hydrencéphalie

•

hydrate de carbone

•

hydratation cutanée

•

•

•

•

hydranencéphalie

•

hydramnios chronique

•

hydramnios aigu

•

hydroa

•

Létal

•

Maladie opportuniste

•

hydrine

•

•

hydroa aestivalis

•

malformation kystique adénomatoïde du poumon

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Lester (signe de)

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malformation mamelonnaire

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malf ormation dysraphique

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malformation luxante de la hanche

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malformations de la charnière occipitocervicale

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malformation vasculaire cérébrale du nourrisson

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malformation vaginale

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hydroa vacciniforme de Bazin

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malformation utérine

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malformation ombilicale

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malformation mammaire

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Rétinite pigmentaire

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en:young ▷?

• Mathieu Lafourcade • LIRMM (données libres en Creative Commons) •

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=8038226 • caches: c1=8 c2=764 c3=762

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A propos

Le Diko est la version dictionnaire du réseau obtenu avec JeuxDeMots, PtiClic, Askit et Totaki. Les données sont libres de droit. Pour contribuer, il suffit soit de jouer à JeuxDeMots, soit de contribuer directement ici (vous devez être connecté avec votre pseudo et cliquer sur le crayon en haut à droite pour passer en mode contributif).
Ce dictionnaire est associatif selon de multiples types de relations, et ne contient pas de définition (vous pouvez préférer une sortie non formatée du rezo). Informations complémentaires et statistiques, ici.

Champs masqués

vide

17.8 s