Le Diko - en:midline defects

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Le Diko - en:midline defects

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le dictionnaire d'associations lexicales
contributif et libre de JeuxDeMots

en:midline defects

Nom

Informations lexicales

Langue:anglais

Associations d'idées

1000

en:type ii is progressive and leads to shortened lifespan

•

en:most patients lose ambulation 2 years after onset

•

en:term infants generally die within hours of birth, but 1 patient was kept alive for 13 months with ventilatory support

•

en:some patients may show mild decrease in head circumference over time

•

en:some features are variably expressed

•

en:response to benadryl (diphenhydramine)

•

en:prevalent among european, particularly spanish, gypsies (r1109x, 608206.0006)

•

en:physiologic decreased plasma cholinesterase activity in pregnancy, the puerperium, and newborns

•

en:persistent bleeding after trauma

•

en:patients require achilles tendon lengthening in first or second decade of life

•

en:paternal age effect

•

en:onset of symptoms in third to sixth decade of life

•

en:onset of symptoms in second to fifth decades of life

•

en:neurologic signs onset during adolescence or young adulthood

•

en:may be lethal in infancy if untreated

•

en:visceral manifestations are less apparent

•

en:male to female ratio 21:8

•

en:males mores severely affected than females

•

en:later onset of neurologic features

•

en:genetic heterogeneity, see ppnad1 (610489)

•

en:estimated prevalence of 1 in 16,000

•

en:carrier males are unaffected except for psychiatric/behavioral abnormalities

•

en:carrier frequency 1:700 in bukhara jewish populations

•

en:carrier females are less affected (short stature with rhizomelic shortening of limbs, mild body asymmetry, and mild mental retardation)

•

en:based on report of 2 patients with dhtkd1 mutation (last curated november 2014)

•

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

•

en:autosomal recessive inheritance has also been reported

•

en:3 reported cases, 1 pedigree of affected sibs, neither parent affected

•

en:type 3 - brandywine isolate opalescent dentin (125500)

•

en:treatment with serine and glycine replacement may alleviate features if started at birth

•

en:onset of cardiomyopathy may occur several months after birth

•

en:allelic disorders with overlapping phenotypes include charcot-marie-tooth disease type 1 (cmt1b, 118200 and cmt1a, 118220) and dejerine-sottas syndrome (dss, 145900)

•

en:increased prevalence in individuals of turkish descent

•

en:some patients show significant clinical improvement with riboflavin supplementation

•

en:alpha thalassemia-mental retardation syndrome

•

en:see also glut1ds2 (612126), an allelic disorder with a less severe phenotype

•

en:see also autosomal dominant fmf (134610), caused by heterozygous mutations in the mefv gene

•

en:patients with adult onset present with psychiatric features

•

en:onset of motor disturbances in childhood

•

en:onset in infancy or early childhood (birth to 6 years)

•

en:onset in early childhood (infancy to age 7 years)

•

en:nova scotian variant (type d) is considered a genetic isolate of npc1 and is associated with a mutation in the npc1 gene (607623.0004)

•

en:nonprogressive or very slowly progressive

•

en:neonatal onset

•

en:most patients are clinically asymptomatic

•

en:many patients are asymptomatic

•

en:some carrier females have episodes of significant hyperammonemia in infancy or childhood

•

en:increased frequency among jewish iranian individuals from isfahan

•

en:death in utero or as neonate

•

en:incompletely penetrant phenotype in heterozygotes

•

en:autosomal dominant with complete penetrance

•

en:based on 1 family (last curated september 2012)

•

en:based on 2 reported patients, 1 male and 1 female (last curated august 2013)

•

en:bleeding is usually delayed-onset after challenge

•

en:based on 1 4-generation chinese family

•

en:death occurs early in neonatal period due to respiratory failure

•

en:de novo mutation in heterozygotes

•

en:disease is life-threatening if untreated

•

en:female carriers may show intermittent hematuria

•

en:hyperthermia in early childhood

•

en:death usually in teenage years

•

en:variable age at onset (childhood to adulthood)

•

en:one report of a large italian family from sardinia (last curated december 2015)

•

en:onset between 5 to 28 years of age

•

en:onset of hearing loss ranges from childhood to young adulthood

•

en:onset of symptoms 2-6 years of age

•

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

•

en:onset usually in adulthood although childhood onset has been reported

•

en:onset usually in second decade

•

en:patients with recessive mutations have a more severe phenotype

•

en:sporadic occurrence is associated with advanced paternal age

•

en:three amish patients have been reported (as of february 2012)

•

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

•

en:mild manifestations in carrier females (cleft lip, cleft tongue)

•

en:environmental triggers include (koebner's phenomenon), sunburn, hiv infection, beta-hemolytic streptococcal infection, certain medications, stress, and alcohol

•

en:majority of cases in manitoba indians, northeastern manitoba, canada

•

en:increased susceptibility to neisseria infections

•

en:incomplete penetrance

•

en:incidence - 1/16,000 live births

•

en:gradual progression of hearing loss

•

en:favorable response to treatment with minocycline or azithromycin

•

en:familial (10%) and isolated cases

•

en:diurnal fluctuation, more apparent in earlier years, later subsides

•

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

•

en:based on the report of one consanguineous pakistani family (last curated august 2015)

•

en:autosomal dominant with incomplete penetrance

•

en:allelic disorder to paramyotonia congenita (168300)

•

en:age at onset 15 to 33 years

•

en:acute attacks rarely occur before puberty

•

en:wasting of the hands is the first and most prominent manifestation

•

en:mutation in pnpla6 identified in 1 laurence-moon syndrome family (last curated march 2015)

•

en:affected individuals can pull hair from any part of the body, including eyelashes and eyebrows

•

en:haploinsufficiency of grn (138945)

•

en:some heterozygous cpt2 mutation carriers may be symptomatic

•

en:reduced penetrance, estimated to be 15% at 60 years, 21% at 70 years, and 32% at 80 years

•

en:onset of symptoms in second or third decade (mean 25 years)

•

en:onset of seizures in first months of life

•

en:onset occurs earlier in males than females

•

en:one family with 3 affected girls has been reported (as of october 2011)

•

en:often fatal due in infancy due to intractable diarrhea

•

en:nyctalopia is a later feature of the disorder

•

en:most pregnancies with affected fetuses resulted in elective termination

•

en:lifelong occurrence

•

en:later onset has been rarely reported (up to age 68 years)

•

en:high infant mortality due to malnutrition as well as complications of parenteral nutrition

•

en:see speech-language disorder 1 602081 and familial developmental dysphasia 600117 for similar disorders

•

en:half of cases show retarded head circumference equal to height retardation

•

en:clinical overlap with charcot-marie-tooth disease type 2c (606071)

•

en:genetic heterogeneity (see coxpd1, 609060)

•

en:arrhythmias detected prenatally (in some patients)

•

en:attacks precipitated by drugs, alcohol, and endocrine factors (hcp)

•

en:both germline (familial) and somatic (sporadic) mutation in kit (164920) and pdgfra (173490) have been found

•

en:classic triad is megaloblastic anemia, diabetes, and deafness, but some patients may not have this triad

•

en:all cases from a remote village, sabinas, in northern mexico

•

en:death in early childhood has been reported in some presumed homozygotes

•

en:sporadic or acquired pct precipitated by alcohol, estrogens, iron, and polychlorinated cyclic hydrocarbons

•

en:erythema often triggered by sudden temperature change or emotional stress

•

en:favorable initial response to l-dopa

•

en:female carriers may have hearing loss and/or subclinical peripheral neuropathy

•

en:frequency of attack, monthly - bimonthly

•

en:distinct disorder from acquired limb-girdle myasthenia (159400) and congenital limb-girdle myasthenia (254300)

•

en:most patients are clinically asymptomatic and show normal development

•

en:most patients die in infancy

•

en:mutation carriers have an increased risk of developing breast and/or ovarian cancer at an earlier age

•

en:nail changes may be intermittent in some patients

•

en:onset between ages 10 and 25 years

•

en:number of episodes varies from 1 to many (up to 20)

•

en:onset between 2 and 4 years of age

•

en:majority of cases are sporadic, some autosomal dominant families have been described

•

en:onset of bleeding in infancy or early childhood

•

en:onset of blistering skin in infancy with improvement over time

•

en:onset of hearing loss in late childhood

•

en:may be misdiagnosed as nightmares, night terrors, parasomnias, or psychiatric disorders

•

en:frequency of attacks may decrease with age or during pregnancy

•

en:majority cases are sporadic

•

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

•

en:frequent falls

•

en:disorder is static for first 2 decades and then shows progression of movement disorders and further cognitive decline

•

en:death in childhood may occur

•

en:allelic to multiple synostoses syndrome 1 (186500), tarsal-carpal coalition syndrome (186570), and stapes ankylosis syndrome without symphalangism (184460)

•

en:allelic disorder to nf1

•

en:allelic disorder to limb-girdle muscular dystrophy type 2b (lgmd2b, 253601)

•

en:accounts for 1-2% of lymphomas in adults

•

en:50% of cases are de novo

•

en:service comment 20:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:patients older than 60 years have severe degenerative arthritis in the feet

•

en:allelic disorder to usher syndrome type 1f (602083)

•

en:pain in lower limb

•

en:precipitated by fever

•

en:four unrelated patients with zswim6 mutations have been described (last curated september 2014)

•

en:prevalence of sleep terrors less than 1% in adults

•

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

•

en:phenotypic variability

•

en:onset early in first decade

•

en:one of the most common autoimmune diseases

•

en:nonprogressive

•

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

•

en:intolerant of heat

•

en:incomplete penetrance of the 3 main clinical signs, myopathy, dementia, and paget disease

•

en:highly variable phenotype, ranging from asymptomatic to severe

•

en:genetic heterogeneity (see hhf1 256450)

•

en:mean age at onset 48 years (range 38 to 64)

•

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

•

en:variable ictal semiology

•

en:skin manifestations may not be present

•

en:five patients have been reported (last curated december 2014)

•

en:the relationship of central core disease to moderate multiminicore with hand involvement is unclear, for a description of classic multiminicore disease, see 602771

•

en:three patients have been reported (as of february 2012)

•

en:variable age at onset, but usually in childhood

•

en:variable features and severity

•

en:variable phenotypic expression within same individual in each eye (in some patients)

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en:service comment 25:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:death in infancy or early childhood

•

en:dramatic improvement with proper treatment

•

en:episodic metabolic decompensation usually associated with illness

•

en:one likely consanguineous turkish family has been reported (last curated january 2015)

•

en:patients may have head and neck paragangliomas only, adrenal or extraadrenal pheochromocytomas only, or both

•

en:one patient with severe congenital onset has been reported

•

en:onset in the second to fourth decades of life

•

en:onset in utero or in infancy

•

en:onset of dystonia is in childhood

•

en:symptoms often decrease or remit with age

•

en:prevalence ranges from 1 in 12,000 to 1 in 50,000

•

en:rare patients with homozygous null mutations have most severe disease

•

en:some patients do not develop stroke

•

en:stillborn or lethal in the neonatal period

•

en:successful treatment with oral isotretinoin

•

en:symptom onset ranges from infancy to adulthood

•

en:most remit by 2 months

•

en:neurologic involvement may occur in the absence of visceral involvement

•

en:allelic disorder to charcot-marie-tooth disease type 2d (cmt2d, 601472), but distinguished by less severe distal sensory involvement

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en:metabolic decompensation, episodic

•

en:cause of death usually due to respiratory failure before adulthood

•

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

•

en:accounts for 5-15% of childhood epilepsies

•

en:age at onset 14 to 44 years

•

en:allelic to naxos disease (601214)

•

en:approximately half of cases are due to de novo deletions

•

en:attacks often drug-induced

•

en:corrected by bone marrow transplantation

•

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

•

en:diarrhea-associated (d+hus), occurs in children younger than 3 years, associated with verotoxin-producing e. coli (90% of patients) (typical hus)

•

en:early death, usually before age 2 years

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en:episodes brought on by fasting or infection

•

en:fat pads become less prominent with time

•

en:frequency increases with advancing age

•

en:heterozygous carriers exhibit palmoplantar hyperkeratosis (see 148700)

•

en:twenty-five percent of affected babies are stillborn

•

en:highly variable intrafamilial expression

•

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

•

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

•

en:type 3: craniosynostosis, early demise, sporadic

•

en:stable or slowly progressive course

•

en:some patients show onset later in childhood

•

en:some patients have an attenuated phenotype

•

en:seizure onset between 3 and 11 years

•

en:presents with inguinal hernia (prepubertal) or primary amenorrhea (post pubertal)

•

en:pigmentary abnormalities apparent at birth or in infancy

•

en:onset usually in late adolescence or early adulthood (range 15 to 45 years)

•

en:onset of autoinflammation in infancy or first few years of life

•

en:one consanguineous arab family has been reported (last curated july 2015)

•

en:no phenotypic manifestations

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en:mutation in rp9 gene in family (607331.0001) likely not pathogenic

•

en:most patients are asymptomatic

•

en:later onset in females

•

en:some patients may show response to immunosuppressive agents

•

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

•

en:approximately 25% have a severe course and die of respiratory failure

•

en:frequency between 1 in 58,000 to 1 in 1,000,000

•

en:ultrarapid metabolizers have multiple copies of the cyp2d6 gene (124030.0007)

•

en:variable abnormalities

•

en:age of onset varies from 5-32 years of age

•

en:allelic to brachydactyly, type a2 (112600)

•

en:allelic to the more severe pantothenate kinase-associated neurodegeneration (nbia1, 234200)

•

en:adult onset (20 to 40 years)

•

en:based on report of 1 large 6-generation family (last curated july 2015)

•

en:definite diagnosis if 3/4 criteria present (epistaxis, telangiectasia, visceral lesion, or family history)

•

en:favorable response to rituxan (in some patients)

•

en:cataracts present at birth or develop in infancy

•

en:episodes of fatigue or weakness (in some patients)

•

en:clinical presentation varies

•

en:cayler cardiofacial syndrome was classically described as hypoplasia of the depressor anguli oris muscle and congenital heart defects

•

en:patients may become wheelchair-bound

•

en:associated with iron deficiency anemia

•

en:allelic to enhanced s-cone syndrome (268100)

•

en:allelic disorder to familial cylindromatosis (132700) and brooke-spielger syndrome (bss, 605041)

•

en:adult onset has been reported (age 50 years)

•

en:wide clinical variability

•

en:usher syndrome type iii (postlingual progressive deafness, variable vestibular dysfunction, and progressive retinitis pigmentosa with variable age of onset) - 1 locus

•

en:up to 25% of patients are asymptomatic or mildly affected, suggesting incomplete penetrance

•

en:two unrelated patients have been reported (last curated august 2013)

•

en:some patients may have residual muscle weakness

•

en:relapsing-remitting course

•

en:prevalent among patients of asian descent, particularly japanese

•

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

•

en:onset of lesions usually in first or second decade of life, but may occur as late as the seventh decade

•

en:onset in infancy or late childhood

•

en:onset in early childhood after initial normal development

•

en:onset <30 months

•

en:one of the 2 most common forms of oca in the world along with oca1

•

en:nonprogressive hepatic form is less frequent

•

en:most cases are responsive to steroids

•

en:lower limbs more severely affected

•

en:hundreds to thousands of patches of pale normal skin appear during childhood and increase in number and size over time

•

en:high prevalence among individuals of middle eastern or african descent

•

en:based on a family from an endogamous jewish community of mosul, iraq (last curated august 2015)

•

en:age at onset ranges from childhood to adulthood

•

en:complete penetrance with variable expressivity

•

en:based on report of 3 patients from 2 families (last curated march 2016)

•

en:electrolyte imbalances can mimic renal bartter syndrome (601678)

•

en:congenital onset

•

en:no congenital form

•

en:early death in some patients due to cardiorespiratory involvement

•

en:variable age at onset (infant to adult)

•

en:uterine leiomyomata are found in hereditary leiomyomatosis and renal cell cancer syndrome (150800)

•

en:upper limb involvement occur later

•

en:two subtypes noninflammatory type a and inflammatory type b

•

en:two japanese patients have been reported (last curated march 2013)

•

en:symptoms improve with age, resulting in woolly hair with almost normal hair density

•

en:some patients show infantile onset

•

en:some patients carry heterozygous mutations

•

en:six patients have been reported (5/18/2011)

•

en:rare adult onset

•

en:onset 6 months to 2.5 years

•

en:variable locations

•

en:most common form of bowel obstruction in infancy

•

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

•

en:moderate age-related improvement of pancreatic function

•

en:genetic heterogeneity, see mitochondrial inheritance of the disorder (500003)

•

en:green jaundice occurs only in the context of liver failure or obstructive cholestasis

•

en:hair phenotype present at birth and involves entire scalp region

•

en:generalized dystonia in some cases

•

en:increased frequency in finland

•

en:late-adult onset (age 50 or later)

•

en:left side involvement more frequent than right side involvement

•

en:median age at diagnosis 7 years

•

en:median age of onset of leukoplakia - 7 years (range 1-26 years)

•

en:increased prevalence in persons of ashkenazi jewish descent

•

en:loss of ambulation within 10 years of onset

•

en:heterozygous deletion of the terminal band 22q13.3 including shank3 (606230)

•

en:highly variable intrafamilial severity

•

en:juvenile myoclonic epilepsy (jme, 606904)

•

en:one 9-generation family and 1 isolated patient described (last curated march 2014)

•

en:lymphedema occurs in childhood

•

en:mean age at termination 3 to 4 years

•

en:one family has been reported (as of september 2011)

•

en:one patient has been reported

•

en:onset at early age, associated with sudden death in childhood

•

en:genetic heterogeneity, see fhm1 141500

•

en:hemolysis may be exercise-induced

•

en:bone changes tend to develop after first decade

•

en:dryness and impaired vision in older adults

•

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

•

en:death in early childhood

•

en:death in childhood

•

en:clinical details not provided beyond a statement that the phenotype is 'identical to that of lccs3' (611369)

•

en:both homozygous and heterozygous edn3 mutations have been found

•

en:based on report of 3 unrelated children (last curated january 2016)

•

en:based on report of 2 consanguineous pakistani families (last curated march 2016)

•

en:age of onset ranges from 1 to 47 years

•

en:affected fetuses frequently undergo spontaneous abortion

•

en:acquired protein c deficiency seen in liver disease, dic, and following surgery

•

en:acquired disorder

•

en:nutritional risk index:arbitrary concentration:point in time:^patient:quantitative

•

en:onset birth to 6 months

•

en:patients between 30 and 60 years have discomfort with prolonged standing

•

en:progresses through puberty, then stabilizes

•

en:most mutations occur de novo

•

en:repeat expansions range from 70 to over 1,000 (normal 5 to 30 repeats)

•

en:variable expressivity, some patients may be clinically asymptomatic

•

en:three affected sibs have been reported

•

en:sudden death secondary to impaction of medulla oblongata

•

en:see also autosomal dominant robinow syndrome (180700)

•

en:patients may be asymptomatic, but are at risk for metabolic decompensation

•

en:patients have normal pituitary function

•

en:onset usually before age 40 years (range 15 to 55)

•

en:onset at birth or in first days or life

•

en:one family has been reported (last curated september 2013)

•

en:no skin abnormalities

•

en:most patients present in infancy with anemia

•

en:onset in adolescence to early adulthood

•

en:four patients from 3 families have been reported (last curated february 2014)

•

en:based on report of 2 probands (last curated october 2014)

•

en:facial palsy often transient in infancy

•

en:some individuals may be clinically asymptomatic

•

en:variable number of nails involved

•

en:accounts for <2% of patients with alzheimer's disease

•

en:allelic disorder to parkinson disease-1 (park1, 168601)

•

en:see also antenatal bartter syndrome type 1 (601678) and bartter syndrome type 2 (241200)

•

en:based on report of 2 sibs in 2008

•

en:carrier females have normal funduscopic examinations and normal waveforms on electroretinography.

•

en:death at 13 to 30 years

•

en:episodes may be precipitated by fear, unexpected noises, emotional responses, movement

•

en:can be treated by bone marrow transplantation

•

en:mild expression in heterozygous carriers

•

en:incidence of mh in anesthetized children is 1 in 15,000

•

en:increased tendency to chromosomal nondisjunction

•

en:majority of cases are due to de novo mutation

•

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

•

en:onset in late infancy

•

en:motor fluctuations

•

en:one family of french-canadian origin has been reported (last curated july 2015)

•

en:onset usually in second decade of life, although earlier and later onset have been reported

•

en:phenotypic overlap with munke syndrome (602849) due to a mutation in the fgfr3 gene (p250r, 134934.0014)

•

en:progression of disease stops at a best-corrected visual acuity of 0.2 (20/100) to 0.1 (20/200)

•

en:hyperpigmented skin macules appear after age 3 years and increase in frequency with age

•

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

•

en:six patients reported (last curated march 2015)

•

en:heterozygotes have mild, transient hypothyroidism in infancy

•

en:generally considered to be a benign disorder

•

en:early exhaustion on exertion

•

en:death in childhood often results from respiratory insufficiency

•

en:death at 10 to 15 years

•

en:a wnt3 mutation has been identified in 1 affected family

•

en:a subset of patients have heterozygous mutations, which may predispose to disease development

•

en:all reported patients are female

•

en:affected females have apparently normal puberty but later develop secondary amenorrhea with anovulatory cycles

•

en:adult form onset has after 20 years

•

en:adult-onset is referred to as small fiber neuropathy

•

en:acute attacks lasting 24-48 hours

•

en:service comment 12:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:see also pseudohypoparathyroidism type ia (103580)

•

en:high incidence of diabetes mellitus noted in opll patients

•

en:torso and upper body remain normal in shape and contour

•

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

•

en:seizures resolve by 4 months of age

•

en:patients with variant cjd are homozygous for met129 polymorphism (176640.0005)

•

en:onset of peripheral neuropathy in the first decade

•

en:onset in infancy (1-2 years)

•

en:onset in childhood or youth

•

en:onset in childhood, but most noticeable in mid-teens and early adulthood

•

en:onset about 6 months of age after normal growth and development in the first few months of life

•

en:one report of a mother who was mosaic for ring chromosome 14 transmitting it to her 2 sons

•

en:one family has been reported (last curated october 2012)

•

en:one family has been reported (as of august 2010)

•

en:mild symptoms may occur in teenage years

•

en:many become wheelchair bound

•

en:variable age at onset, early childhood to adult

•

en:headaches last hours to days

•

en:death in infancy common for patients with the classic neonatal form

•

en:good response to steroid treatment

•

en:allelic disorder to corticosterone methyloxidase type ii deficiency (610600)

•

en:allelic to multiple pterygium syndrome, lethal type (253290)

•

en:based on a report of 2 affected male cousins (last curated june 2015)

•

en:based on reports of one consanguineous saudi family and one consanguineous turkish family (last curated december 2014)

•

en:metabolic rate^resting:engrat:pt:^patient:qn

•

en:death usually within first weeks of life

•

en:dystonia occurs later

•

en:episodes last about 1.5 hours

•

en:four families have been reported (last curated june 2011)

•

en:death within 6 years after onset

•

en:gait abnormality

•

en:onset in early childhood (2-4 years)

•

en:fractures decrease after puberty but increase after menopause

•

en:genetic heterogeneity (see bscl2, 269700)

•

en:many patients lose independent mobility after 25 years

•

en:may show good response to levodopa

•

en:patients often have other clinical symptoms resulting from dysfunction of the autonomic nervous system

•

en:onset in the first hours or days of life

•

en:onset of muscle weakness in fifth decade

•

en:risk of affected offspring in paternal translocation carrier - 0-7%

•

en:see also dyggve-melchior-clausen disease (223800)

•

en:seizures recur in 33% of patients

•

en:females may be unaffected or mildly affected

•

en:found predominantly in the amish population

•

en:arteriovenous malformations can occur throughout the body

•

en:extracutaneous manifestations are variable

•

en:earliest symptom onset in sixth decade of life

•

en:distinguished from nbia1 by the presence of hypobetalipoproteinemia and acanthocytosis

•

en:distinct disorder from familial limb-girdle myasthenia (254200)

•

en:death in first months of life

•

en:corneal steepening is proportional to the degree of axial foreshortening

•

en:cataracts are progressive but may vary between eyes of an individual

•

en:all reported cases result from de novo mutation (last curated july 2014)

•

en:allelic to dyggve-melchior-clausen disease (223800)

•

en:allelic disorder to multiple familial trichoepithelioma 1 (mft1, 601606) and familial cylindromatosis (fc, 132700)

•

en:affected males have normal pubertal development and are fertile

•

en:adolescent or adult onset associated with neuropsychiatric symptoms

•

en:acral hemorrhagic variant

•

en:static or slowly progressive

•

en:skeletal abnormalities are variable

•

en:end-stage renal failure in first decade

•

en:systemic granulomatous disease

•

en:normal alleles have 25 to 44 repeats

•

en:unusual cabbage-like odor

•

en:two sibs born of consanguineous moroccan parents have been reported (last curated may 2012)

•

en:symptomatic if > 200 repeats

•

en:some patients may not achieve walking

•

en:some patients can be treated with large doses of vitamin d and calcium

•

en:seizures are refractory

•

en:presents at birth or early childhood

•

en:poor outcome

•

en:perinatal death

•

en:onset of thrombosis by age 2 years

•

en:onset of gaze palsy at birth

•

en:onset of ataxia in early childhood (range 15 months to 3 years)

•

en:often refractory to medical therapy

•

en:two unrelated patients with slightly different phenotypes have been reported (last curated august 2013)

•

en:high risk of death in infancy due to cardiac failure

•

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

•

en:typical attacks last from seconds to minutes, but longer occurrences have been reported

•

en:variable age at onset, range infancy to adult

•

en:abnormal morphogenesis of first and second branchial arches

•

en:adult onset may occur

•

en:allelic disorders with overlapping phenotypes include dss, congenital hypomyelination (chn, 605253), and some forms of axonal cmt2 (see 607677)

•

en:based on detailed clinical description of 1 family

•

en:carrier males are fertile

•

en:clinical and pathologic features of both demyelinating and axonal cmt

•

en:death often secondary to pneumonia or congestive heart failure

•

en:diagnosis within the first 3 months of life

•

en:disability by end of first decade

•

en:genetic heterogeneity (see 610168)

•

en:genetic heterogeneity (see bscl1, 608594)

•

en:type 2cb is characterized by defective binding affinity for collagen types i and iii

•

en:typically no physical features of albright hereditary osteodystrophy (aho)

•

en:type iiib liver involvement only (15% of all cases)

•

en:seizures may occur with illness

•

en:type 2n is characterized by decreased binding affinity for factor viii

•

en:two subtypes based on pathologic findings of 'balloon cells' - type iia, absence of balloon cells and type iib, presence of balloon cells

•

en:two unrelated patients have been reported (last curated december 2010)

•

en:two unrelated patients have been reported (as of may 2011)

•

en:two unrelated families have been reported (last curated february 2014)

•

en:two unrelated families, one north african descent and one of italian descent, have been reported (last curated august 2014)

•

en:two unrelated chinese families have been reported (last curated february 2014)

•

en:upper limb involvement may occur later

•

en:unaffected individuals carry 3 to 14 repeats, whereas affected individuals carry 650 to 2,500 repeats

•

en:variable response to levodopa treatment

•

en:usually shows early age at onset (range 1 to 7 years, mean 4.6 years)

•

en:variable age at onset (earliest reported 7 years)

•

en:variable age at onset of symptoms, from second to fifth decade of life

•

en:variable cataract phenotypes within a family

•

en:variable penetrance

•

en:variable phenotype, some patients have very mild symptoms

•

en:length of time post dose:time:point in time:^patient:quantitative

•

en:variable severity, even within families

•

en:variation in slc24a5 has also been associated with variation in skin color (shep4)

•

en:waddling gait, often presenting sign in second year

•

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

•

en:worldwide prevalence of 1/100,000

•

en:z allele most common, only in caucasians

•

en:age:time:pt:^patient:qn:calculated

•

en:two patients in one ashkenzai jewish family described (last curated june 2014)

•

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

•

en:subset of patients have french-canadian leigh syndrome (220111)

•

en:two patients from spain have been reported (as of january 2012)

•

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

•

en:service comment 15:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:seizures may remit in adolescence

•

en:sensorineural hearing loss may be presenting feature

•

en:seven patients reported (as of march 2011)

•

en:skin manifestations appear in infancy or childhood and are gradually progressive until the mid-to-late second decade of life

•

en:some boys with premutations (55 to 200 repeats) may show milder features, including autistic features

•

en:some carrier females have mild features

•

en:some familial occurrence, most de novo aberrations

•

en:some females are affected

•

en:some female patients can conceive after administration of gonadotropins

•

en:some mutations have been found in homozygosity and the phenotype is more severe than that of the heterozygous parents

•

en:some patients may develop interictal progressive ataxia

•

en:some patients may need surgery or renal transplant

•

en:some patients show improvement in muscle power in the teenage years

•

en:two jordanian sibs have been reported (last curated november 2014)

•

en:some patients show rapid disease progression

•

en:spastic paraplegia 2 (spg2, 312920) is an allelic disorder

•

en:subtype 3c (231005) comprises cardiovascular calcifications

•

en:sudden death may occur

•

en:survival past infancy is rare

•

en:symptoms begin focally, later segmental or generalized

•

en:symptoms may be exacerbated by pregnancy or trauma

•

en:symptoms precipitated by exercise and excitement

•

en:symptoms usually last 30-60 minutes

•

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

•

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

•

en:three unrelated families have been reported (last curated march 2016)

•

en:three unrelated patients have been reported (last curated february 2016)

•

en:two families have been reported (as of may 2011)

•

en:reference lab test number and name:identifier:time reported elsewhere:reference lab test:nominal

•

en:based on 3 patients from 2 families (last curated january 2015)

•

en:service comment 31:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:broad-based gait

•

•

en:asymptomatic if papillary zone is spared

•

en:autosomal dominant inheritance has been reported

•

en:autosomal recessive cytochrome b-positive cgd, type i

•

en:axial skeleton most commonly affected

•

en:based on 2 men from 2 unrelated consanguineous iranian families

•

en:based on 2 siblings in a consanguineous family (last curated august 2015)

•

en:see also x-linked dominant form (300652)

•

en:based on report of 1 family (last curated october 2014)

•

en:based on report of 2 families (last curated january 2014)

•

en:benign trait

•

en:bimodal age of onset

•

en:body habitus becomes apparent in childhood

•

en:candidiasis is restricted to nails of hands and feet

•

en:apparent in newborn at birth

•

en:carrier females may have mild features

•

en:carrier females show no clinical phenotype

•

en:cataracts develop by second decade of life

•

en:central hypoventilation occurs late in the disease and is often fatal

•

en:classic: onset in first decade, rapid progression, loss of independent ambulation within 15 years

•

en:classic hepatic form begins in first months of life with hepatic failure and death by age 5 years

•

en:clinical features may vary

•

en:clinical overlap with distal hereditary motor neuropathy type vii (dhmn vii, 158580)

•

en:complementation groups - complementation group a (classic mliii, 252600)

•

en:complete recovery upon treatment of hyperthyroidism

•

en:congenital - over 2,000 repeats

•

en:congenital cataracts, sometimes requiring extraction in childhood due to impairment of vision

•

en:d+hus (typical hus) is usually sporadic, limited to 1 event, and has a good prognosis

•

en:death frequent in severe infantile form

•

en:approximately 60% of brrs patients have pten mutations

•

en:anemia, hypothyroidism, aminoaciduria, and lactic acidosis all occurred in 1 patient

•

en:service comment 41:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:age of onset 5 to 40 years

•

en:service comment 71:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:pulse generator system for tympanic treatment of inner ear endolymphatic fluid

•

en:10-15% with primarily defects of cellular immunity, not manifesting until >2yrs of age

•

en:21% of hereditary wilms tumor are bilateral

•

en:75% of affected individuals are female

•

en:abnormal transferrin pattern tends to improve with age

•

en:about half of patients with gjb2/gjb6 deafness report vestibular symptoms

•

en:accounts for 5 to 7% of all cases of congenital adrenal hyperplasia

•

en:adult onset (mean 60 years)

•

en:adult onset - 100-1,000 repeats

•

en:affected females have been reported

•

en:age at onset 15 to 25 years

•

en:age at onset most often in childhood (first decade)

•

en:age of onset 2-8 months

•

en:age of onset ranges from infancy to young adulthood (6 months-19 years)

•

en:all patients have severe hearing loss 10 to 15 years after onset

•

en:allelic disorder to benign recurrent intrahepatic cholestasis (bric1, 243300)

•

en:allelic disorder to generalized epilepsy with seizures-plus (gefs+, 604233)

•

en:allelic disorder to hyperkalemic periodic paralysis (hypp, 170500)

•

en:allelic disorder to infantile-onset ascending spastic paralysis (iahsp, 607225)

•

en:allelic disorder to long qt syndrome-1 (lqt1, 192500)

•

en:allelic disorder to stickler syndrome 3 (184840)

•

en:allelic disorder to t cell-negative, b cell-negative, nk cell- negative scid (601457), which is more severe

•

en:allelic to marshall syndrome (154780)

•

en:allelic to papillon-lefevre syndrome (245000) and juvenile periodontitis (170650)

•

en:allelic to stickler syndrome, type 3 (184840) and weissenbacher-zweymuller syndrome (277610)

•

en:allelic to trp1 (190350)

•

en:allelic to type i osteopetrosis (607634), osteoporosis-pseudoglioma (259770), type ii van buchem disease (607636), and high bone mass (601884)

•

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

•

en:all features are unilateral

•

en:see recessive form optb4 (611490)

•

en:onset of renal failure in adulthood (range twenties to fifties)

•

en:see also the autosomal recessive form (243000)

•

en:occurs in ~3% pregnancies in western populations

•

en:most patients die in early childhood

•

en:most patients show early childhood onset after a period of normal development

•

en:most severe form of gaucher disease

•

en:mutant alleles have 47 to 63 repeats

•

en:natural aversion to carbohydrates and favoring of protein

•

en:neurologic symptoms are progressive

•

en:neuromuscular forms can present as perinate, infant, child, or adult

•

en:new skin lesions stop appearing before adolescence

•

en:noise exposure causes more severe hearing loss at high frequencies (2,000 to 8,000 hz)

•

en:no chronic or permanent liver damage

•

en:no dysmorphic features

•

en:no neurologic sequelae

•

en:occurs in at least 1 in 55,000 male births (that figure may not include milder variants)

•

en:often results in death in childhood

•

en:most patients become wheelchair-bound in later childhood

•

en:one consanguineous omani family with a kif7 mutation has been described (last curated january 2016)

•

en:one consanguineous pakistani family has been reported (last curated march 2016)

•

en:one consanguineous turkish family has been reported (last curated august 2015)

•

en:one family and an unrelated patient have been reported (last curated july 2014)

•

en:one family has been reported (as of april 2012)

•

en:one family of algerian descent has been reported (last curated february 2015)

•

en:one family of puerto rican descent has been reported (last curated january 2015)

•

en:one family reported (as of may 2012)

•

en:one korean family has been reported (as of november 2011)

•

en:one large 4-generation uruguayan family reported (last curated august 2014)

•

en:one patient has been reported (as of december 2011)

•

en:one swiss family with 19 affected individuals has been described (last curated february 2014)

•

en:onset 1-12 years

•

en:onset 7 to 15 months of age

•

en:most patients die from heart failure

•

en:most have resolution of symptoms between 6 and 12 months

•

en:onset age 15-25 years

•

en:may fade with age

•

en:death in the first decade, usually from liver failure

•

en:limb-girdle muscular dystrophy type 2l (lgmd2l, 611307) is an allelic disorder

•

en:liver failure episodes cease in later childhood

•

en:liver involvement can range from mild to severe

•

en:majority of cases are secondary to de novo mutation

•

en:majority of cases from middle eastern countries

•

en:majority of cases occur in brazilian population

•

en:majority of patients from italy and southwestern united states

•

en:majority of wws patients die within the first year of life

•

en:males are more severely affected than females

•

en:marked heterogeneity

•

en:marked variability in severity of the skin lesions

•

en:masa is an acronym - mental retardation, adducted thumbs, shuffling gait, and aphasia

•

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

•

en:most common subtype of frontotemporal dementia (600274)

•

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

•

en:mean age at onset 10.6 years

•

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

•

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

•

en:mean age at onset of migraines is 42 years

•

en:mean age of onset 16 to 19 years

•

en:mean survival 5 months

•

en:mecp2 mutations are those found in females with rett syndrome (312750)

•

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

•

en:milder expression in female heterozygotes

•

en:mild features such as digital clubbing may be apparent in older heterozygotes

•

en:mode of inheritance is unclear, x-linked recessive inheritance could not be ruled out

•

en:more commonly observed in women

•

en:most become wheelchair-bound late in life

•

en:onset ages 2 to 14 years

•

en:onset at 4 to 7 years

•

en:see also pseudohypoparathyroidism type ib (603233) and ic (612462)

•

en:profound dementia and death usually occurs by age 50 years

•

en:patients with null mutations have neonatal onset within 72 hours of birth

•

en:pavms occur more frequently in hereditary hemorrhagic telangiectasia 1 (hht1) than hht2

•

en:peak age of onset in second decade (range childhood to 76 years)

•

en:plasma cholinesterase measurement

•

en:poor response to g-csf treatment

•

en:possibly allelic to cohen syndrome (216550)

•

en:presentation between 6-18 months

•

en:presents at a later stage than sporadic wilms tumor

•

en:present at birth

•

en:prevalence of 1 in 227 hopi indians

•

en:prevalence of 1 in 3,000

•

en:prevalence of 7 in 100,000 live births

•

en:prevalence of in 1 in 8,000

•

en:progressive disorder, usually with rapid, relentless course

•

en:patients present with groin pain

•

en:progressive disorder that may become stable in young adulthood

•

en:rapid disease progression

•

en:rapid progression in adolescence

•

en:rarely produces clinical jaundice

•

en:rare survival to teens

•

en:recurrent bacterial infections with onset in the first or second year of life

•

en:responsive to high-dose biotin or biotin/thiamine treatment

•

en:risk haplotype found in dutch families

•

en:see also an adult-onset form (213600)

•

en:see also chromosome 2q32-q33 deletion syndrome (612313)

•

en:see also cmtx1 (302800) and cmtx2 (302801)

•

en:see also facial hemihypertrophy (133900)

•

en:see also french-canadian type of leigh syndrome (220111)

•

en:see also mmab (251110)

•

en:patients with glaucoma have nonsense or truncating sbf2 mutations (607697.0002)

•

en:patients have no abnormalities of hair, teeth, or bone

•

en:onset before 10 years of age in all patients

•

en:onset of fracture usually when child begins to walk

•

en:onset between 18 and 65 years

•

en:onset between 7 and 18 years

•

en:onset from first to third decades of life

•

en:onset in childhood (ages 1.5 to 7 years)

•

en:onset in childhood with exacerbation during puberty

•

en:onset in early twenties

•

en:onset in first 2 decades (range 6 to 15 years)

•

en:onset in first 6 months of life

•

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

•

en:onset in first or second decade (range 4 to 13 years)

•

en:onset in second decade or as young adult

•

en:onset in second to third decades (postlingual)

•

en:onset in teens or early twenties

•

en:onset of mild symptoms in first or second decade

•

en:patients do not exhibit ophthalmoplegia

•

en:onset of muscle weakness around age 5 years

•

en:onset of optic neuropathy is usually in early adulthood

•

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

•

en:onset of periodic paralysis (mean) 5 years (range) 8 months to 15 years

•

en:onset of progressive spastic paraplegia in childhood

•

en:onset of seizures in first months of life (usually 4 to 7 months)

•

en:onset of symptoms 2-12 months

•

en:onset of symptoms between ages 3-8 years of age

•

en:onset of symptoms in first or second decade of life

•

en:onset usually at birth, but may occur later

•

en:onset usually in adolescence

•

en:onset usually in childhood (range 17 months to 39 years)

•

en:onset usually in childhood or adolescence

•

en:onset usually in the third decade (range 11 to 50 years)

•

en:death in childhood occurs without bone marrow transplantation

•

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

•

en:death often in childhood

•

en:progressive renal disorder

•

en:phenotype may or may not be consistent within a family.

•

en:phenotypic heterogeneity

•

en:pigmented spots appear in infancy through childhood and fade in adulthood

•

en:possible favorable response to ketogenic diet

•

en:possible gonadal mosaicism in one report

•

en:possible x-linked recessive inheritance

•

en:precipitated by general anesthesia

•

en:presentation in adults - episodic or nocturnal diarrhea, flatulence, weight loss, iron deficiency anemia, macrocytic anemia, coagulopathy, vitamin d deficiency

•

en:prevalence 1/10,000-1/15,000 female births

•

en:prevalence of 1 in 150 to 1 in 1,000

•

en:prevalence of 1 in 3,900 in south africa

•

en:prevalence of 2-7% in english-speaking preschool children

•

en:prevalent among individuals of east asian descent

•

en:protracted course

•

en:pcs is a distinct disorder from premature centromere division (pcd, 212790), which affects only the x chromosome

•

en:pseudomembrane formation triggered by injury, infection, irritation, surgery

•

en:rare spontaneous improvement occurs (8%)

•

en:reduced penetrance (89%)

•

en:relatively mild cutis laxa, associated with severe vascular abnormalities

•

en:renal dysfunction normalizes in the first year of life

•

en:responsive to oral mannose therapy

•

en:risk of sudden death in childhood due to cardiac arrest

•

en:sando (607459) is a phenotypic variant of autosomal recessive peo

•

en:secondary hemorrhage

•

en:see 609888 for a discussion on leprosy susceptibility

•

en:see also familial cold autoinflammatory syndrome (120100), an allelic disorder with overlapping features

•

en:see ebn1 (121200) for an autosomal dominant form

•

en:see joubert syndrome 7 (611560), an allelic disorder with a less severe phenotype

•

en:seizures may be triggered by infection

•

en:peo is not always present

•

en:patients often have a more severe and complicated phenotype in addition to peo

•

en:seizures precipitated by fatigue or alcohol

•

en:onset of hematologic or cns tumors in the first or second decades of life

•

en:onset in second and third decades

•

en:onset in second decade of life progresses from mild to profound hearing loss

•

en:onset in teens has been reported

•

en:onset in the fourth to sixth decades (mean 40 years)

•

en:onset may occur in adulthood

•

en:onset often in late adolescence

•

en:onset of bleeding symptoms in childhood or young adulthood

•

en:onset of cataracts in late adolescence

•

en:onset of choreoathetosis in childhood or young adult (6-23 years)

•

en:onset of diabetes at less than 25 years of age

•

en:onset of distal muscle weakness in adulthood (range twenties to forties), however, pes cavus or percussion-inducted contractions may be present earlier

•

en:onset of edema in childhood

•

en:onset of febrile seizures typically between 6 months and 6 years of age

•

en:onset of joint pain in childhood

•

en:patients have severe anemia requiring regular transfusions for normal activity

•

en:onset of lesions may occur in early childhood or as late as the seventh decade

•

en:onset of major clinical features in young adulthood

•

en:onset of osteoarthritis in teens to early adulthood

•

en:onset of proteinuria in the second to fourth decades

•

en:onset of sensory neuropathy in later adulthood

•

en:onset of visual dysfunction in early childhood

•

en:onset usually at birth

•

en:onset usually before age 10 years

•

en:onset usually in young adulthood

•

en:onset within first 2 years

•

en:ophthalmologic signs onset in first to sixth decade

•

en:ossification occurs spontaneously during childhood

•

en:other visual functions, including visual acuity, visual field, and color vision, are usually normal in these patients

•

en:pancreatic endocrine abnormalities reported in 1 family only

•

en:seizures may occur upon awakening or at any time during the day

•

en:seven patients from 4 families in israel have been reported (last curated july 2015)

•

en:onset in late adulthood (44 to 73 years)

•

en:variable age at onset, infancy to adulthood

•

en:two siblings of consanguineous turkish parents have been reported

•

en:two types - one with premature ovarian failure (bpes type 1) and one without pof (bpes type 2)

•

en:two unrelated families have been reported (last curated may 2014)

•

en:two unrelated patients have been reported (last curated july 2014)

•

en:two unrelated patients have been reported (last curated june 2013)

•

en:type 2n shows autosomal recessive inheritance

•

en:type iii is intermediate form

•

en:typically sporadic occurrence

•

en:u.s. frequency higher in blacks than whites

•

en:uncommon disorder

•

en:usually fatal in first 2 decades

•

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

•

en:variable age at onset, but most often in the first 2 decades

•

en:variable age at onset, most often in second decade

•

en:thromboembolism is the most common cause of death

•

en:variable age at onset, ranging from 18 months to 27 years

•

en:variable age at onset (range infancy to 30 years)

•

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

•

en:variable age of onset (range 1-40 years)

•

en:variable age of onset of renal manifestations

•

en:variable phenotype and severity

•

en:variable severity that correlates with rate and magnitude of neuronal protein accumulation

•

en:variant lesch-nyhan, 1.5-8% hprt activity with neurologic abnormalities, but no self-injurious behavior

•

en:visual acuity varies considerably, depending on the presence of secondary defects such as retinal exudates or detachment

•

en:walking delay

•

en:wide phenotypic variability

•

en:wide range of severity between affected members of the same family

•

en:worldwide frequency of 1 in 100,000 infants

•

en:young-adult onset (18-30 years) of sensory ataxia

•

en:two japanese brothers have been reported (as of september 2011)

•

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

•

en:severe infections in untreated patients with neutropenia

•

en:sudden death in affected males occurs in teens

•

en:single lesions in sporadic cases

•

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

•

en:skin manifestations are more severe and of later onset than papillon-lefevre syndrome

•

en:skin peeling exacerbated by heat, friction, and humidity

•

en:somatic mosaicism has been observed in some patients

•

en:some more severely affected patients may die in infancy

•

en:some patients have only ocular involvement or only oral involvement

•

en:some patients have onset at birth or in early infancy, whereas other have onset in late childhood or adolescence

•

en:some patients may respond to thiamine treatment

•

en:spontaneous tumor regression may occur

•

en:static, nonprogressive disorder

•

en:stickler syndrome (108300) and marshall syndrome share several characteristics such as midface hypoplasia, high myopia, and sensorineural hearing loss

•

en:subtype of migraine with aura

•

en:survival greater than one year rare

•

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

•

en:survival to advanced age

•

en:symptoms ameliorate with age

•

en:symptoms may be aggravated by acute illness

•

en:symptoms may decrease after age 30 years

•

en:symptoms occur only during sleep

•

en:symptoms often improve gradually with age

•

en:symptoms typically begin in childhood

•

en:symptoms usually resolve without treatment

•

en:those with intermediate repeat expansions show reduced penetrance

•

en:three patients (2 sisters and 1 unrelated female) have been reported (last curated july 2012)

•

en:three patients from 1 mexican family has been reported (last curated april 2013)

•

en:three patients from 2 unrelated families have been reported (last curated august 2015)

•

en:three patients reported, one with a wdpcp mutation (last curated january 2015)

•

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

•

en:onset in late childhood (after age 10 years)

•

en:onset in late-childhood to early adulthood (12 to 20 years)

•

en:death often in infancy

•

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

•

en:genetic anticipation occurs

•

en:genetic heterogeneity, see fhm1, (141500) and mgr1, (157300)

•

en:genetic heterogeneity, see spg3a (182600)

•

en:genetic heterogeneity (see 304800)

•

en:genetic heterogeneity (see 608638)

•

en:genetic heterogeneity (see cftd1, 255310)

•

en:genetic heterogeneity (see cmt2b2, 605589)

•

en:genetic heterogeneity (see lqt1 192500)

•

en:genetic heterogeneity (see madb, 608612)

•

en:genetic heterogeneity (see psnp1 601104)

•

en:good response to clonazepam

•

en:good response to gaba-enhancing medications

•

en:gradual spontaneous improvement in the first year of life

•

en:heterozygotes may also exhibit small joint hypermobility or conductive hearing loss

•

en:four types of cgd with basically identical clinical phenotypes

•

en:heterozygous carriers have decreased blood pressure compared to the general population

•

en:heterozygous females have milder thyroid phenotype and no neurologic abnormalities

•

en:hid (hystrix-like ichthyosis with deafness, 602540) is identical to kid at the molecular level

•

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

•

en:high incidence in saguenay-lac st. jean region of the province of quebec, canada and northern europe

•

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

•

en:incidence 1 in 20,000

•

en:incidence in united states of 1 in 55,000

•

en:incidence of 1% in yarmouth county, nova scotia

•

en:incidence of 1 in 150,000 live births in the general population

•

en:incomplete penetrance with 45 to 51 repeats

•

en:increased frequency in ashkenazi jews (carrier frequency 1 in 14)

•

en:increased frequency in individuals originating from western scotland

•

en:increased frequency in persian jews (1:1,300)

•

en:four unrelated boys have been reported (last curated march 2015)

•

en:four patients from 3 unrelated families have been reported (last curated july 2012)

•

en:increased paternal age

•

en:early childhood lethality may occur

•

en:death usually in childhood

•

en:death usually in first year of life

•

en:delayed separation of umbilical cord

•

en:delta-f508 present in 70% of alleles

•

en:diabetes mellitus develops in adolescence

•

en:diagnosed in second or third decade of life

•

en:disease-free intervals can last weeks to years during which there is no clinical or biochemical evidence of cholestasis

•

en:diurnal fluctuation

•

en:does not result in renal failure

•

en:dysmorphic facial features may not be present

•

en:dystonia and seizures may persist after resolution of episodes

•

en:earlier onset associated with increased severity

•

en:earliest age of onset 12 years of age

•

en:early death without kidney transplant

•

en:first fracture in early childhood

•

en:elevated afp can be seen in other disorders

•

en:empiric risk for a sib of an affected child between 2 and 5%

•

•

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

•

en:exacerbation of symptoms during or after pregnancy

•

en:facial appearance becomes more apparent with age

•

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

•

en:favorable response to spironolactone

•

en:features occur episodically

•

en:feet are unaffected

•

en:females carriers have more variable age at onset and severity

•

en:females have milder manifestations than males

•

en:female carriers may show some manifestations, such as hearing impairment

•

•

en:increased frequency in the state of bahia, brazil

•

en:inheritance may be x-linked dominant

•

en:onset in infancy or in the first months of life

•

en:one family with confirmed cecr1 mutation has been reported (last curated august 2014)

•

en:normal development until onset of seizures

•

en:not all patients have all features

•

en:no situs inversus

•

en:occurs in full-term newborns

•

en:oculomotor apraxia is not always present

•

en:one 4-generation caucasian italian family with a heterozygous crybb3 mutation has been reported (last curated august 2014)

•

en:one 5-generation acc family with mutation in bms1 has been described (last curated august 2014)

•

en:one consanguineous algerian family has been reported (last curated august 2014)

•

en:one consanguineous family has been reported (last curated may 2014)

•

en:one consanguineous pakistani family and 1 unrelated patient have been reported (last curated september 2015)

•

en:one family has been reported (last curated april 2014)

•

en:one family has been reported (last curated august 2013)

•

en:one family of irish traveller descent described (last curated september 2013)

•

en:one indian family has been reported (as of october 2011)

•

en:normal ability to tolerate heat

•

en:one large french family and 1 patient with sporadic occurrence have been reported (last curated january 2013)

•

en:one patient has been reported (as of sept 2011)

•

en:one patient has had favorable response to high dose coenzyme q10 supplementation in combination with other medications

•

en:one patient was less severely affected

•

en:onset 3 months of age up to 5 years

•

en:onset 5 to 7 years

•

en:onset at age 5 to 15 years

•

en:onset before age 3 years

•

en:onset between 2-5 years

•

en:onset between 3 and 6 months of age

•

en:onset between the second and sixth decades

•

en:onset in childhood, adolescence

•

en:onset in first 2 decades

•

en:onset in first days of life

•

en:normal alleles contain 6 to 28 repeats

•

en:nonsyndromic

•

en:late onset combined immunodeficiency with allelic variant 102700.0020

•

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

•

en:limited clinical information due to surgical removal of lens in affected individuals

•

en:limited clinical information provided for patients with bbs12 mutations (last curated october 2014)

•

en:limited clinical information provided on patients with bbs7 mutations

•

en:live born infants die within few hours of birth

•

en:luton and torrance type differentiated based on histologic findings in cartilage

•

en:majority are stillborn or die in early neonatal period

•

en:majority of cases have been sporadic

•

en:majority of patients have normal intelligence

•

en:majority of wilms tumors are sporadic

•

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

•

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

•

en:marked favorable response to l-dopa treatment

•

en:may be triggered by minor head trauma

•

en:may not be clinically manifest until middle life

•

en:mean age of onset 56 years

•

en:neurologic signs are present in the neonatal period only

•

en:medial onset of end stage renal disease 13 years

•

en:median age at onset is 21 years

•

en:med is a heterogeneous disorder (see med1 (132400), med2 (600204), med3 (600969), med4 (226900), med5 (608078), and med with diabetes mellitus (226980))

•

en:mild facial dysmorphism is associated with duplication of the flna gene

•

en:more common in ashkenazi jews

•

en:more common in females (male:female ratio 4:1)

•

en:more severe in males than in females

•

en:most (80 to 90%) of cases result from deletions of the sts gene

•

en:most patients develop symptoms while on prophylactic vitamin d supplementation in infancy

•

en:most patients need assistance walking or are wheelchair-bound

•

en:multiple gene loci involved in causation of schizophrenia

•

en:muscle symptoms precede cardiac symptoms

•

en:near-normoglycemic remission for period of months to years without insulin treatment

•

en:negative repeat expansion (reverse anticipation) can occur (approximately 5% of the time)

•

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

◀

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6947093 • caches: c1=16 c2=2006 c3=2

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