Le Diko - en:juvenile form has onset between 4 and 19 years

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Le Diko - en:juvenile form has onset between 4 and 19 years

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en:juvenile form has onset between 4 and 19 years

Nom

Informations lexicales

Langue:anglais

Associations d'idées

1000

en:type 1 - associated with osteogenesis imperfecta (125490)

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en:neurologic symptoms are progressive

•

en:sporadic cases often single lesions versus multiple lesions in familial cases

•

en:sleep disturbance or sleep apnea (obstructive, central, or mixed)

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en:skin lesions resolve between 6 months and 2 years of age

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en:severe infantile form presents before 6 months

•

en:see also perinatal lethal variant (608013), which is more severe

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en:see also autosomal dominant peoa1 (157640)

•

en:prevalence of 1 in 150,000

•

en:onset often begins in childhood or adolescence

•

en:one patient with severe congenital onset has been reported

•

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

•

en:occurs in 2-5 per 10,000 individuals

•

en:no family history, de novo mutations

•

en:mutations are frequently maternally inherited

•

en:two clinical presentations - solely neurologic form and a neurologic-multivisceral form

•

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

•

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

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en:lesions increase in size and number with age

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en:intermediate expression in females

•

en:incidence of 1/100,000 in italy and finland

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en:four types of opll - segmental (39%), continuous (27%), mixed (29%), other (5%)

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en:favorable response to lenalidomide treatment

•

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

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en:death usually by age 3 years

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en:clinical features other than liver findings may vary

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en:a subset of patients have additional features, including mental retardation and hypogonadism associated with larger deletions at xp22.3

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en:95% of cases are sporadic

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

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

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en:one patient has been reported (as of july 2010)

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

•

en:onset in childhood (range birth to 10 years)

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en:two pairs of sisters described from two canadian dariusleut hutterite families (last curated september 2013)

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en:symptoms develop immediately after birth

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en:stillborn or death in infancy

•

en:usually occurs in young adults

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en:rash, edema, and arthralgia may occur during crisis

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en:prevalent in newfoundland

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en:prevalence is estimated to be 1 in 1,100,000

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

•

en:onset of ataxia between 1 and 3 years of age

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en:onset of acanthosis nigricans correlates with onset of diabetes

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en:onset in teens has been reported

•

en:onset in second or third decades

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

•

en:see also antenatal bartter syndrome type 1 (601678), bartter syndrome type 2 (241200), bartter syndrome 3 (607364), and bartter syndrome 4b digenic (613090)

•

en:onset in adolescence to early adulthood

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en:death usually due to renal failure by average age 3

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en:one family with 6 probands described (as of september 2000)

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en:reference lab test results:finding:time reported elsewhere:reference lab test:narrative

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en:age at onset 15 to 25 years

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en:carrier females may show mild mental retardation or learning disabilities

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

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en:antibodies can develop after pregnancy or transfusion

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en:early death in males

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en:most patients become wheelchair-bound after 20 to 30 years

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en:incidence of 1 in 25,000 to 1 in 50,000 newborns

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en:joint laxity decreases with age

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en:may or may not be responsive to pyridoxine (vitamin b6) treatment

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en:female carriers may show intermittent hematuria

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en:one patient (patient b) with autosomal recessive inheritance had a more severe phenotype

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en:one six-generation family from northern china has been reported (last curated august 2015)

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en:only 46,xy individuals are affected

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en:onset between 8 and 30 years

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en:onset of kyphosis in childhood

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en:onset by age 2 years

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en:onset of dilated cardiomyopathy less than 3 years

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en:onset of slowly progressive spastic paraplegia in first or second decade

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en:see also optic atrophy with deafness (125250), an allelic disorder

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

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en:ninety percent of cases are female

•

en:congenital onset leading to cochlear implants between 7-10 years of age in ashkenazi jewish families

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

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

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en:genetic heterogeneity (see cmt4a 214400)

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en:frequency increases with advancing age

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en:female carriers may be less severely affected

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en:features usually appear during adulthood

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en:early-onset associated with more severe course and early death

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en:classic triad consists of nail dystrophy, skin hyperpigmentation, and mucosal leukoplakia

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en:all cases due to de novo mutation (last curated february 2014)

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en:allelic to osteoporosis-pseudoglioma syndrome (259770), van buchem type 2 (607636), high bone mass (601884), autosomal dominant endosteal hyperostosis (144750)

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en:about half of patients report vestibular symptoms

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en:some patients have milder persistent blistering

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en:seizure onset at a mean of 14 months (range 6 to 36 months)

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en:mliii is a heterogeneous disorder

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en:symptoms begin focally, later segmental or generalized

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en:mean age of onset 16 to 19 years

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en:two consanguineous lebanese families have been reported (last curated march 2015)

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en:three families have been reported (as of september 2011)

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en:see also congenital stiff person syndrome (149400)

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en:recurrent cholestatic episodes in puberty, following surgery or severe trauma, and pregnancy

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en:patients often nonambulatory by the mid-twenties

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en:onset of palmoplantar hyperkeratosis 7-8 years of age

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en:onset in the first few months of life patients may need lifelong total parenteral nutrition

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en:onset after age 40 years

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

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en:one consanguineous tunisian family has been reported (last curated june 2015)

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en:occurs in full-term newborns

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en:onset age 32 to 45 years

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

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en:between 2 and 7% of children will develop afebrile seizure disorders later in life

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en:variable neurologic phenotype

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en:two types, type i or type a (classical cockayne syndrome, 216400) and type ii or type b (severe cockayne syndrome, 133540)

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en:adult onset (mean 30 years, range 10-65 years)

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

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en:autosomal recessive inheritance can occur

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en:based on report of one 5-generation family (last curated december 2015)

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en:death in first weeks of life

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en:four cases have been reported, all female

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en:fracture frequency constant through childhood, decreases after puberty

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en:gapo is acronym for growth retardation, alopecia, pseudoanodontia, optic atrophy

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

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en:polyps occur in teens

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en:occurs in full-term infants

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

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en:one palestinian family and one lebanese family have been described (last curated march 2016)

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en:onset of hand involvement at 14 to 60 years

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en:reference lab test method:type:time reported elsewhere:reference lab test:narrative

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en:prevalence is estimated to be 1 in 150,000

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en:some patients may live to adulthood

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

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

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

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en:most patients lose ambulation 2 years after onset

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en:no chronic or permanent liver damage

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en:service comment 66:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

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en:most cases are de novo occurrences, but rare autosomal dominant inheritance has been reported

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en:may coexist with autoimmune vitiligo or thyroiditis

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

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en:increased frequency in iraqi jews, selected arab populations, french gypsies, and natives of southern india

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en:increased frequency in individuals of asian descent

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en:high frequency in the french-canadian population

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en:highly variable dysmorphic features

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en:features may be bilateral (15/24) or left side (9/24)

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en:death due to rapidly progressive pulmonary fibrosis in infancy

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en:carrier females have arthralgias in middle age

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en:based on report of one consanguineous kuwaiti family (last curated december 2014)

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

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en:affected boys in 3 unrelated families have been reported, consistent with x-linked recessive inheritance (last curated september, 2015)

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en:reference lab test name:type:time reported elsewhere:reference lab test:nominal

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en:adult form is asymptomatic

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en:allelic to leopard syndrome (151100)

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

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en:onset of skin manifestations from birth to puberty

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en:variably severity

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en:a subset of patients may have congenital abnormalities of the ocular anterior segment

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en:variable age at onset, from birth to ninth decade

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

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en:thorax anomaly ameliorates with age (in some patients)

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en:the majority of female heterozygotes reveal ophthalmologic abnormalities - multiple, micropunctate, gray lens opacities or single, dense posterior cataract

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en:telangiectasia become evident between the second and eighth year of life

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en:some pedigrees are consistent with autosomal dominant inheritance

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en:some patients have lethal fetal akinesia with death in utero

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en:some mutation carriers have mild features of frontonasal dysplasia (613451)

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

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en:possibly x-linked recessive inheritance

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en:pancreatic endocrine abnormalities reported in 1 family only

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en:variable onset, from infancy to young adulthood

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en:onset of calf hypotrophy may occur earlier

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en:levodopa-responsive

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en:onset of arthritis in early childhood

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en:death by age 5 (infantile form)

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en:good response to gaba-enhancing medications

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en:good response to vitamin d treatment

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en:high frequency in finnish population

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en:common in afrikaan population, south africa

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en:mutations show partial penetrance

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en:onset 50 to 65 years

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en:neurologic symptoms are not always present or may appear late

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en:one patient has been reported (last curated january 2014)

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

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en:nails may be intermittently involved

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

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en:onset of myoclonus later in childhood

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en:onset usually in early childhood (but can range from infancy to adulthood)

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en:onset usually in third or fourth decade

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en:slight male predominance (3:2)

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en:prevalence estimated at 1 in 86,000

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en:retinal arteriolar tortuosity develops in adolescence and is progressive

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en:some patients show delayed development from birth

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•

en:symptoms vary according to location of tumor

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en:neurologic symptoms may occur after trauma

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en:occasional late-onset of symptoms with homozygosity (e.g. 612283.0005 protein c deficiency, homozygous)

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en:complete penetrance but extreme variability of phenotypic expression

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en:neurologic dysfunction is infrequent and associated with delayed diagnosis

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en:myelodysplastic syndrome developed in 1 of 12 mutation-positive patients

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en:may be fatal

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en:incidence of 1 in 250,000 births

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en:death usually in infancy or early childhood

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

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en:classic lesch-nyhan, < 1.5% hypoxanthine phosphoribosyltransferase (hprt) activity

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en:both heterozygous and homozygous mutations have been reported

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en:birth rate of 7.6 per 1,000,000

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

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en:age:time:pt:^egg donor:qn

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en:two families reported (last curated february 2013)

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en:three families have been reported (last curated november 2014)

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

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en:health insurance plan benefits comment:finding:point in time:^patient:narrative

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en:onset 6 months to 2.5 years

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en:laboratory comment:txt:pt:report:nar

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en:spasticity occurs before parkinsonism

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en:see also severe, early-onset form (300717)

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en:see also optic atrophy 1 (165500), an allelic disorder without deafness

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en:risk factors for development of tgct - family history, cryptorchidism (219050), testicular feminization (300068), klinefelter syndrome, previous tgct, gonadal dysgenesis

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en:presentation at 3-6 weeks of age

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en:onset usually in childhood (infancy to teens)

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en:onset soon after birth or within the first year of life

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en:onset of overgrowth in second to third month of life (in some cases)

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en:onset of bone disease in second decade (range 18-44 years)

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en:onset in childhood of blistering and pigmentary changes

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en:persistent exposure to fructose leads to chronic liver and kidney complications

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en:mean age at onset for variant cjd is 29 years (before age 45 years)

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en:candidiasis is restricted to nails of hands and feet

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en:keratitis-ichthyosis-deafness syndrome

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en:21% of hereditary wilms tumor are bilateral

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en:94% develop hypertension at 18 years of age or less

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en:about 25% of cases due to new mutations

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en:three patients have been described (last curated january 2013)

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en:service comment 37:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

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en:five patients have been reported (as of 8/2011)

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en:flares triggered by viral infection, overexertion, stress

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

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en:initially normal for first 6-18 months which is then followed by withdrawal and regression

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en:congenital hypotonia from 8 to 12 months, then progressive spasticity resulting in contractures and spastic quadriplegia

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

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en:seizures tend to remit later in childhood

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en:one patient has been reported (last curated november 2010)

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en:onset in first few years of life

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en:onset in first weeks or months of life

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en:onset of deafness and diabetes in adulthood

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en:patients have normal levels of vitamin a, beta-carotene, and zinc

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en:slow progression without marked disability

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

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en:skin blistering and photosensitivity improve in adulthood

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en:thin, fine hair described in few individuals

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en:three patients with sox 18 mutations from 2 unrelated families have been reported (last curated june 2015)

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

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en:up to 60% of female mutation carriers develop lobular breast cancer

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en:normal alleles contain up to 30 repeats

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en:autosomal recessive inheritance has also been reported

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en:may be lethal in infancy

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en:death may occur in early infancy

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en:allelic disorder to paramyotonia congenita (168300)

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en:allelic to tyrosinemia, type iii (276720)

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

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en:based on report of 2 unrelated patients

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en:death at 20 to 40 years

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en:death in the mid-twenties

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en:evidence of prenatal fractures

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en:may be benign condition

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en:excessive posttraumatic blood loss

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en:favorable response to cholinesterase inhibitors

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en:genetic heterogeneity (see, e.g., nys1 310700, nys2 164100, nys4 193003)

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en:genetic heterogeneity (see cmt2a 118210)

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en:live born infants die within few hours of birth

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en:major cause of death is heart failure

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en:service comment 33:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

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en:allelic to may-hegglin anomaly (155100), fechtner syndrome (153640), epstein syndrome (153650) and deafness, autosomal dominant 17 (603622)

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en:service comment 63:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

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en:prevalence in sardinia is 1 in 14,000

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en:motor symptoms develop later (about 5 years into illness)

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

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

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en:onset at age 5 to 15 years

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en:onset between ages 1 to 3 years

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en:periventricular heterotopia (300049) is an allelic disorder

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en:prevalence of sleep terrors about 3% in children

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en:midline defects

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

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en:some heterozygous carriers exhibit accelerated age-related hearing loss

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en:adult onset (range 34 to 66 years)

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en:upper limb involvement occur later

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en:variable expressivity of each feature

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en:variable frequency (daily to monthly)

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en:most cases are caused by the factor v leiden mutation (r506q, 612309.0001)

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en:some patients may lose independent ambulation

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

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en:distribution of involvement is variable and may include craniofacial, thoracic, abdominal, and extremity structures

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en:mean age at onset 27 years (range 9 to 42)

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en:age of onset/diagnosis 12-35 years

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en:allelic disorder to nieman-pick disease type b (607616)

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en:caused by 55-200 expanded trinucleotide repeats in the fmr1 gene (309550) referred to as a 'premutation'

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en:death can occur in infancy

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en:death usually in infancy due to respiratory failure

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en:autonomic symptoms occur with headaches

•

•

en:lifetime risk of ovarian cancer in mutation carriers is 40 to 50%

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en:fifty percent of cases are sporadic

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en:genetic heterogeneity, see lgmd2a (253600)

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en:high frequency of de novo mutations

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en:l-dopa-induced dyskinesias

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en:late infantile onset 6-24 months

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en:fatal in the neonatal period (in some patients)

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en:progressive disorder, usually with rapid, relentless course

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en:rapidly progressive course

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en:see also benign familial neonatal-infantile convulsions (bfnis, 607745), which shows some phenotypic similarities

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en:similar to infantile neuroaxonal dystrophy (inad, 256600)

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en:some heterozygous carriers may have mild manifestations

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

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en:subtype 3c (231005) comprises cardiovascular calcifications

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en:those who survive initial acute episode have no recurrence of hepatic involvement, but may have persistent hypotonia

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en:udp-galactose-4-epimerase deficiency in circulating blood cells only ('peripheral' or 'mild' form, usually asymptomatic)

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en:variable age at onset (range prenatal to mid-adulthood)

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en:onset of parkinsonism in early twenties

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en:patients may present with recurrent illnesses or infections, or shock

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en:early childhood onset (before age 5 years)

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en:onset in late childhood/adolescence (approximately 15 years)

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en:onset in childhood (range 4 to 12 years)

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

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en:one consanguineous pakistani family reported (last curated august 2013)

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en:majority of cases in japan

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en:hair regrowth may occur later in life

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en:gonadal mosaicism reported

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en:genetic heterogeneity (see lgmd1a 159000 for overview)

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en:distinct disorder from autosomal dominant hyper ige syndrome (147060)

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

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en:asymmetric muscle involvement

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

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en:adult onset (27 to 48 years)

•

en:variable severity between patients and between eyes (in some patients)

•

en:warm weather and alcohol are alleviating factors

•

en:allelic disorder to van der woude syndrome (vws, 119300) and popliteal pterygium syndrome (pps, 119500)

•

en:may be seen with other forms of cancer in a family

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en:allelic to marshall syndrome (154780)

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en:vhl type 2c - pheochromocytoma only

•

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

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

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en:some features are variable, even within families

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

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en:prevalence of 1 in 300,000 in quebec

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en:poor gonadotropin response to gonadotropin releasing hormone (gnrh)

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en:patients need lifelong total parenteral nutrition

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en:onset of nephrotic syndrome and thrombocytopenia in mid-childhood

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en:onset of end-stage renal disease 15 to 20 years after onset

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en:mutation in npr2 results in gain-of-function

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en:seizures are refractory

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en:liver involvement can range from mild to severe

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en:death within first year of life in 25%

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en:autosomal recessive cytochrome b-positive cgd, type ii (233710)

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en:increased rate of miscarriage in affected individuals

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en:average age of onset 15 years (range 4 to 40)

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en:a subset of patients have a 'visual variant'

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en:based on report of 1 family (last curated february 2015)

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en:clubfoot is bilateral in most patients

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en:duane anomaly is not always present

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en:favorable response to 3,4-diaminopyridine

•

en:genetic heterogeneity, see (203300)

•

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

•

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

•

en:highly variable phenotype, ranging from asymptomatic to severe

•

en:mutations in the cpo gene cause 3 clinically distinct disorders, hereditary coproporphyria (hcp), 'homozygous' variant hereditary coproporphyria, or harderoporphyria

•

en:onset of symptoms in second or third decade

•

en:neurotransmitter treatment with l-dopa and serotonin or precursors is effective

•

en:one patient has been reported

•

en:one patient showed improvement and was thriving at 46 months of age

•

en:onset in first decade of life

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

•

en:see also familial developmental dysphasia (600117)

•

en:onset of visual loss in the first or second decades

•

en:patients may show normal development

•

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

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en:premature aging syndrome

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en:pyogenic arthritis, pyoderma gangrenosum and acne

•

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

•

en:some patients report increased tolerance to heat

•

en:later onset with a milder phenotype may also occur

•

en:mean age at onset 45 years

•

en:adult onset (after age 35 years)

•

en:intrafamilial variability in nail changes

•

en:allelic to adult syndrome (103285), split hand/foot malformation 4 (605289), rapp-hodgkin syndrome (129400), hay-wells syndrome (106260), and limb-mammary syndrome (603543)

•

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

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en:service comment 28:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

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en:about 50% of patients become wheelchair-bound at an average age of 37 years

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en:adult onset of gait abnormalities

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en:adult onset of neurologic symptoms (range 30 to 46 years)

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en:allelic disorder is brugada syndrome (601144)

•

en:a heterozygous mutation resulting in haploinsufficiency has been reported in 1 patient

•

en:incomplete penetrance in females

•

en:blindness episodes are not associated with fhm episodes

•

en:blisters are precipitated by minor skin trauma

•

en:both recessive and dominant inheritance have been reported

•

en:carrier females may develop intrahepatic cholestasis of pregnancy (icp, 147480)

•

en:contiguous gene syndrome caused by deletion, duplication, or rearrangement of chromosome 7q21.3 involving the dss1 (601285), dlx5 (600028), and dlx6 (600030) genes and possible regulatory elements in the region

•

en:five unrelated patients have been reported (nov. 2009)

•

en:incidence of 0.51 per million in france

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en:symptoms worsen with fatigue and exercise

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en:may be extreme phenotype of generalized epilepsy with febrile seizures plus (gefs+, 604233)

•

en:three unrelated patients have been reported (last curated september 2013)

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en:patients who acquire ability to walk may lose it

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en:moderate age-related improvement of pancreatic function

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en:most patients present in infancy with anemia

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en:most patients remain ambulatory in adulthood

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en:normal cag repeat length is 7 to 32 triplets

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en:normal development until onset of seizures

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en:onset of hypoglycemia and hyperinsulinism in the neonatal period

•

en:see also distal hmn2a (158590)

•

en:mean age at onset 10.6 years

•

en:some patients show a favorable response to sulfonylurea treatment

•

en:three main clinical forms

•

en:two adult sibs have been reported (last curated february 2016)

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

•

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

•

en:variable age at diagnosis

•

en:variable severity of clinical and radiologic manifestations

•

en:mild symptoms may occur in teenage years

•

en:two families described (last curated july 2013)

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en:two unrelated individuals have been reported (last curated january 2014)

•

en:diagnosis occurs between 23 and 33 weeks' gestation

•

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

•

en:variable onset of seizures from neonatal to first year of life

•

en:variable response to levodopa treatment

•

en:allelic disorder to intrahepatic cholestasis of pregnancy (icp, 147480)

•

en:allelic to noonan syndrome (163950)

•

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

•

en:death at birth or within first 2 years of life (severe form)

•

en:'second wind' phenomenon

•

en:dysmorphic facial features are subtle

•

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

•

en:excessive postsurgical blood loss

•

en:familial cases may have affected 46,xy family members who exhibit sex reversal (see srxy3, 612965)

•

en:four patients have been reported (as of december 2009)

•

en:genetic anticipation associated with progressive telomere shortening

•

en:incidence of 1 in 3,900 births among jewish persons

•

en:episodes last about 1.5 hours

•

en:onset in the 3rd decade of life or later

•

en:onset is usually in childhood or adolescence (2 to 18 years)

•

en:onset of lipodystrophy later in childhood

•

en:onset of muscle weakness around age 5 years

•

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

•

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

•

en:successful treatment with oral isotretinoin

•

en:some patients exhibit minimal central lesions with severe peripheral lesions, and vice-versa

•

en:some patients have deletions or duplications of chromosome 2p25.3 encompassing several genes

•

en:two fetuses from terminated pregnancies in 1 family have been reported (last curated march 2015)

•

en:type 3: craniosynostosis, early demise, sporadic

•

en:one family has been reported (last curated april 2015)

•

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

•

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

•

en:favorable response to flunarizine

•

en:may be progressive

•

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

•

en:intellectual disability is variable

•

en:infant death may occur secondary to sepsis

•

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

•

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

•

en:good response to phosphate treatment

•

en:genetic heterogeneity (see 601680)

•

en:family a has 2 sibs born of consanguineous turkish parents with a milder phenotype with onset in childhood

•

en:early death (mean age 13 months)

•

en:decreased penetrance

•

en:death by age 3 years

•

en:ambulation is preserved

•

en:service comment 73:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:service comment 01:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:onset of bleeding in infancy or early childhood

•

en:13% of cases secondary to familial translocation (often maternally derived)

•

en:occurs most often between 5 and 15 years of age

•

en:affected females are infertile

•

en:x-linked recessive cytochrome b-negative cgd

•

en:variable age at onset (usually 20 to 30 years of age)

•

en:two affected sibs have been reported (last curated july 2014)

•

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

•

en:some features occur in adolescence, including migraine, seizures, and psychiatric disorders

•

en:pyridoxine responsive individuals often have milder manifestations than those not responsive

•

en:progressive skeletal dysplasia

•

en:presence of additional features is variable

•

en:paternal anticipation bias

•

en:onset usually in infancy

•

en:onset of edema in childhood

•

en:onset in utero or early infancy

•

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

•

en:variable manifestation of features

•

en:ninety percent of patients with pbg deaminase deficiency are clinically unaffected

•

en:early onset of peripheral neuropathy (mean 2.1 years, range 1 to 10 years)

•

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

•

en:neonatal or infant death

•

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

•

en:carrier frequency 1:200,000 in france

•

en:earlier onset is rare

•

en:allelic to adult syndrome (103285), shfm4 (605289), hay-wells syndrome (106260), and limb-mammary syndrome (603543)

•

en:epiphyseal stippling is gone by 8 months of age

•

en:genetic heterogeneity (see hhf1 256450)

•

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

•

en:most patients die within the first year of life

•

en:high frequency in japan (2 in 20,000, 0.1%)

•

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

•

en:service comment 59:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:(4) thiamine-responsive form

•

en:blood glucose monitor with integrated lancing/blood sample

•

en:supervisor review:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

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

•

en:service comment 29:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:service comment 23:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:performing laboratory phone:tele:pt:facility:nom

•

en:endocrinologist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative

•

en:age at menopause:time:point in time:^patient:quantitative

•

en:1 in 19,000 in japan

•

en:younger onset rarely reported

•

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

•

en:adams-stokes syndrome

•

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

•

en:two thirds of patients are female

•

en:608292) are at increased risk of developing monoclonal gammopathy of undetermined significance (mgus) or multiple myeloma

•

en:about half of patients become wheelchair bound after long duration

•

en:acetazolamide is often effective

•

en:adult onset rarely reported

•

en:affected individuals remain ambulatory

•

en:affected infants appear normal

•

en:affected males are somatic mosaic for mutations

•

en:age at diagnosis 36 +/- 20 years

•

en:age at onset ranges from early childhood to after age 50 years

•

en:age of onset between 20 to 30 years

•

en:wide range of onset from childhood to adult (10 to 50 years)

•

en:allelic disorders with clinical overlap include dss and cmt1b (118200)

•

en:women may be mildly affected

•

en:variable age of onset (range early childhood to adult)

•

en:wide phenotypic variability and severity

•

en:variable age at onset (range 9 to 78 years)

•

en:allelic disorder to a form of dilated cardiomyopathy (cmd1g, 604145)

•

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

•

en:two unrelated families have been reported (last curated november 2012)

•

en:two unrelated patients have been reported

•

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

•

en:two unrelated patients with classic eds and a mutation in col1a1 (120150.0059) has been reported

•

en:two unrelated patients with different phenotypes have been reported (as of march 2012)

•

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

•

en:type i b5r endemic in athabascan indians, navajo indians, and yakutsk natives of siberia

•

en:u-shaped pattern of temperature-dependent potassium flux (in some patients)

•

en:usually adult onset

•

en:usually sporadic disorder resulting from de novo 22q11.2 deletion

•

en:variable age at onset, but usually in childhood

•

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

•

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

•

en:variable clinical presentation ranging from acute onset to normal adult

•

en:variable features and severity

•

en:variable frequency (weekly to yearly)

•

en:variable penetrance of these features

•

en:variable phenotype (range from completely female to males with mild undermasculinization)

•

en:variable phenotype within and between oi5 families

•

en:variable presentation and manifestations

•

en:variable response to vitamin b12 therapy

•

en:variant at may present with dystonia only

•

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

•

en:vast majority of heterozygotes are asymptomatic

•

en:vhl type 1 - renal carcinoma and hemangioblastoma

•

en:waddling gate

•

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

•

en:delta-f508 present in 70% of alleles

•

en:allelic disorder to cln8 (600143)

•

en:death within first months or years of life

•

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

•

en:clinically unaffected heterozygotes may show changes on electroretinography

•

en:clinical overlap with dejerine-sottas syndrome (dss, 145900)

•

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

•

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

•

en:complete absence of melanin synthesis

•

en:contiguous gene deletion syndrome (in most patients)

•

en:course characterized by repeated relapses precipitated by excessive protein intake, intercurrent infection, or constipation

•

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

•

en:death in first-second decade of life secondary to cardio-respiratory compromise

•

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

•

en:death often in childhood

•

en:death often in infancy

•

en:two mother and child pairs have been reported (last curated july 2015)

•

en:childhood onset (average 4 to 6 years)

•

en:described in 6 japanese families

•

en:described in families from western japan

•

en:digenic form type id/f caused by digenic mutation in the cdh23 and pcdh15 (605514) genes

•

en:disorder becomes apparent around age 2 years when patients begin to walk

•

en:distinct disorder from galactosemia (230400)

•

en:distinct disorder from parkinson disease (168600)

•

en:does not result in renal failure

•

en:early age of onset (approximately 45 years)

•

en:early death in some patients due to cardiorespiratory involvement

•

en:endocrine defects evolve over time

•

en:environmental triggers - cold and wet exposure

•

en:estimated prevalence of 1.6 in 1,000,000 individuals in the u.k.

•

en:evidence of systemic iron overload seen in 1 family

•

en:chronic course with exacerbations and remissions

•

en:cataracts develop by second decade of life

•

en:allelic disorder to miyoshi muscular dystrophy 3 (mmd3, 613319)

•

en:associated with trauma and impaired wound repair (alcoholism, diabetes, substance abuse, liver disease)

•

en:allelic disorder to orofaciodigital syndrome 1 (ofd1, 311200)

•

en:allelic disorder to the zlotogora-ogur syndrome (225000)

•

en:allelic to acrokeratosis verruciformis (101900)

•

en:allelic to eec3 (604292), shfm4 (605289), rapp-hodgkin syndrome (129400), hay-wells syndrome (106260), and adult syndrome (103285)

•

en:allelic to fibular aplasia or hypoplasia, femoral bowing, and poly-, syn-, and oligodactyly (fuhrmann syndrome, 228930)

•

en:allelic to infantile sialic acid storage disorder (269920)

•

en:allelic to proximal symphalangism (185800), multiple synostoses syndrome (186500), and stapes ankylosis syndrome without symphalangism (184460)

•

en:allelic to proximal symphalangism (185800), multiple synostoses syndrome 1 (186500), tarsal-carpal coalition syndrome (186570), and stapes ankylosis syndrome without symphalangism (184460)

•

en:allelic to spondyloepimetaphyseal dysplasia, matn-3 related (608728)

•

en:allelic to waardenburg syndrome, type iia (193510)

•

en:all known cases are caused by a finnish founder mutation in the cln8 gene (607837.0001)

•

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

•

en:associated with iron deficiency anemia

•

en:association of cardiac events with exercise

•

en:cardiac failure at birth

•

en:autoimmune manifestations are present in some patients

•

en:autosomal recessive inheritance has been reported (see 601253.0010)

•

en:average age at onset is 24 years (range 4 to 58 years)

•

en:average duration of illness 8 years

•

en:a subset of patients are responsive to vitamin b12 therapy

•

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

•

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

•

en:based on report of 1 3-generation family (last curated november 2014)

•

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

•

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

•

en:based on report of 2 turkish sisters (last curated july 2015)

•

en:based on report of 2 unrelated patients (last curated february 2016)

•

en:based on review of 53 individuals aged 1.2-21.25 years and 11 affected adults (last curated february 2016)

•

en:based on the report of 1 japanese family (last curated july 2014)

•

en:two of 6 patients became wheelchair-bound by age 20 years

•

en:sca8 is caused by bidirectional transcription on chromosome 13q21 involving complementary repeat expansion in atxn8 (613289) and atxn8-opposite strand (603680)

•

en:two families of canadian origin have been reported (last curated may 2012)

•

en:phenotypic similarities to noonan syndrome (163950)

•

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

•

en:patients of brazilian origin have a pure cerebellar atrophy

•

en:patients with abcb4 mutations benefit from ursodeoxycholic acid (udca) treatment

•

en:patients with homozygous mutations have a more severe disorder

•

en:patients with meb may acquire ability to walk and a few words

•

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

•

en:patients with recessive mutations have a more severe phenotype

•

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

•

en:pedigrees compatible with autosomal dominant inheritance have been reported

•

en:penetrance by age 50 is 93% in female mutation carriers and 68% in male mutation carriers

•

en:penetrance is usually complete by age 65 years

•

en:percentages based on review of 51 published cases (pmid 24891339)

•

en:persistent bleeding after trauma

•

en:phenotypic variability, intrafamilial

•

en:patients may become wheelchair-bound as adults

•

en:pigmentation not always butterfly-shaped

•

en:poor response to acetylcholinesterase inhibitors

•

en:poor response to g-csf treatment

•

en:poor response to levodopa treatment

•

en:possible defect of a specific lipase in the pathway of free fatty acid oxidation

•

en:possible x-linked inheritance

•

en:precipitated by fever

•

en:precipitated by infection, fasting, or intercurrent illness

•

en:prenatal or neonatal onset

•

en:presentation in early childhood

•

en:presenting symptoms in the upper body

•

en:presents at a later stage than sporadic wilms tumor

•

en:prevalence 1-2% in northern european populations

•

en:patients may present with autoimmune features or primary immunodeficiency

•

en:patients may become wheelchair-bound

•

en:prevalence of 1 in 10,000 caucasians

•

en:onset of peripheral neuropathy or hearing loss in young adulthood (range 16 to 35 years)

•

en:favorable response to a ketogenic diet

•

en:onset in early infancy

•

en:onset in early infancy (2 to 3 months of age)

•

en:onset in first decade

•

en:onset in infancy (first year of life)

•

en:onset in infancy or childhood (range 1 to 6 years)

•

en:onset in late childhood or adulthood

•

en:onset in late twenties to thirties

•

en:onset in neonatal period or early infancy

•

en:onset in second to third decades (postlingual)

•

en:onset in the second decade and by age 50 is severe in high and middle frequencies and moderate at low frequencies

•

en:onset of acne in adolescence, persists into adulthood

•

en:onset of cardiac involvement later, usually after age 20 years and after skeletal muscle involvement

•

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

•

en:patients in whom echocardiography has been performed have a normal heart, heart valves, and aortic root

•

en:onset of symptoms in childhood

•

en:onset of symptoms often associated with nonspecific febrile illness

•

en:onset of thrombocytopenia in early childhood

•

en:onset of vision loss in young adulthood (<20 years)

•

en:onset soon after birth

•

en:onset usually between 30 and 50 years of age

•

en:onset usually in childhood (range infancy to late childhood)

•

en:onset usually in the neck

•

en:oral supplementation with ubiquinone does not result in major clinical improvement

•

en:pain tends to occur later in the day

•

en:pathogenic alleles have 19 to 33 repeats

•

en:patients become wheelchair-bound about 10 years after onset

•

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

•

en:prevalence of 19 in 1,000,000 in sweden

•

en:prevalence of 1 in 28,000 african-americans

•

en:two families from the tamil nedu region of eastern india have been described (last curated november 2015)

•

en:symptoms are not apparent at rest

•

en:skin manifestations may not be present

•

en:skin neoplasia may appear later in life

•

en:some familial occurrence, most de novo aberrations

•

en:some features not found in all patients

•

en:some male patients exhibit some degree of spermatogenesis, hence the designation 'fertile eunuch syndrome' has been used

•

en:some patients have a crouzon-like appearance

•

en:some patients may be asymptomatic and have only short telomeres

•

en:some patients may have a more protracted disorder with neurodegeneration

•

en:some patients respond to acetazolamide

•

en:some patients show rapid disease progression

•

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

•

en:spectrum of laterality defects

•

en:symptomatic female carriers have been described in 1 japanese family

•

en:symptoms may be exacerbated by pregnancy or trauma

•

en:six genetically confirmed patients have been reported (as of december 2009)

•

en:symptoms of zinc deficiency occur only in exclusively breastfed infants

•

en:symptoms precipitated by sudden movement, stress, exertion, fatigue' attacks typically last for hours

•

en:symptoms precipitated by sudden movements

•

en:t-cell lymphopenia is more severe early in life

•

en:temperature instability

•

en:the majority of patients (~95%) have 1 of 3 mtdna point mutations (g3460a 516000.0001, g11778a 516003.0001, or t14484c 516006.0001)

•

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

•

en:three main phenotypes

•

en:treatment with oral folic acid can ameliorate, resolve, or prevent clinical symptoms and myelination defects

•

en:triggered by exercise, fasting, or other metabolic stresses

•

en:tumor suppressor genes

•

en:two alpha-globin genes - 5-prime or alpha-2 and 3-prime or alpha-1

•

en:two families described (last curated november 2013)

•

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

•

en:sister of affected male siblings had mild learning disabilities and obesity

•

en:prevalence of sleepwalking up to 26% in childhood

•

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

•

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

•

en:prevalent in the old order amish in the u.s. and in finland

•

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

•

en:progression in adulthood

•

en:progressive disease

•

en:protracted disease course

•

en:ratio female to male, 19:10 in index family

•

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

•

en:reduced longevity

•

en:relatively benign course

•

en:resembles pseudo-torch syndrome (251290)

•

en:responsive to thiazide diuretics

•

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

•

en:see also autosomal dominant form (128230)

•

en:similar phenotype to juvenile neuronal ceroid lipofuscinosis 3 (cln3, 204200)

•

en:see also autosomal recessive robinow syndrome (268310)

•

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

•

en:see also park6 (605909), park7 (606324), and park9 (606693) for autosomal recessive disorders with overlapping phenotypes

•

en:see also the x-linked form (300291)

•

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

•

en:seizures are refractory to medication

•

en:seizures are usually refractory at first

•

en:seizures easily controlled by medications

•

en:seizures tend to become more focal with age

•

en:severe hypertension develops in childhood

•

en:shields classification -

•

en:significant clinical overlap with sotos syndrome (117550)

•

en:significant phenotypic variability

•

en:excessive skin picking of sores

•

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

•

en:features in typical patient include mental retardation, microcephaly, short stature, and lean body build

•

en:prevalence rates average 10-20% of the general population over age 60

•

en:patients may or may not have dysmorphic features

•

en:patients with homozygous or compound heterozygous mutations have more severe renal glucose wasting than those with heterozygous mutations

•

en:pedigrees consistent with autosomal dominant and autosomal recessive inheritance have been described

•

en:perinatal lethality

•

en:phenotypic overlap with parkinson disease

•

en:phenotypic variability

•

en:phenotypic variability within families and among patients carrying the same mutation appears to be due to the oligogenic nature of the disorder, with some patients having mutations in more than 1 neuroendocrine-related gene

•

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

•

en:polyhydramnios

•

en:predominantly occurs in young males with a high rate of atopic disease

•

en:preferably treated with iodine supplementation rather than thyroid hormone replacement

•

en:presentation after 18 months

•

en:presumed autosomal dominant with incomplete penetrance

•

en:progressive disorder

•

en:patients become wheelchair-bound as adults

•

en:progressive renal disorder

•

en:protein c deficiency is found in 3-4% of patients with venous thromboembolism

•

en:rapid disease progression from ages 40 to 50 years

•

en:recurrence is possible

•

en:recurrent febrile crises preceded by chills and accompanied by headache and bilateral cervical lymphadenopathy

•

en:reduced fetal movement

•

en:regression in infancy (in some patients)

•

en:repeat is unstable if > 52 repeats

•

en:results in severe motor disability and loss of independent ambulation

•

en:retinal degeneration not always present

•

en:risk of death due to cardiac dysfunction

•

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

•

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

•

en:patients have normal aldosterone/renin ratios and 24-hour urine aldosterone levels

•

en:patients are often asymptomatic

•

en:see also antley-bixler syndrome (abs) with normal steroidogenesis (207410)

•

en:onset of optic atrophy in childhood

•

en:onset in third or fourth decades

•

en:onset in young adulthood or adulthood

•

en:onset may occur in adulthood

•

en:onset occurs earlier in males than females

•

en:onset of achalasia in infancy or early childhood

•

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

•

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

•

en:onset of disease between 25 and 40 years of age

•

en:onset of hearing loss in adolescence

•

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

•

en:onset of hyperpigmentation in early childhood (3 months-6 years) that fades after puberty

•

en:onset of liver involvement in infancy

•

en:onset of mental impairment in early childhood

•

en:onset of parkinsonism in first decade

•

en:partial factor viii deficiency in heterozygous carriers

•

en:onset of proteinuria in the second to fourth decades

•

en:onset of symptoms in adolescence or early adulthood

•

en:onset of symptoms in childhood with stiff, painful joints

•

en:onset of symptoms in early childhood in most patients

•

en:onset of symptoms in second decade of life

•

en:onset of visual loss in the first decade

•

en:onset usually after age 40

•

en:onset usually before age 10 years

•

en:onset usually in adulthood

•

en:onset within first 3 months of life

•

en:otopalatodigital syndrome type ii (opd2, 304120) is an allelic disorder with a more severe, frequently lethal phenotype

•

en:overlapping clinical spectrum and allelic to masa syndrome (303350)

•

en:partially responsive to laser treatment

•

en:see 609888 for a discussion on leprosy susceptibility

•

en:see also autosomal dominant form (160800), which is less common and less severe

•

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

•

en:two sibs died before 2 years of age

•

en:this patient died at age 2 years

•

en:three type of cystinosis are recognized - infantile nephropathic (219800), juvenile or adolescent nephropathic (219900), and adult nonnephropathic (219750)

•

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

•

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

•

en:thromboembolism is the most common cause of death

•

en:tooth agenesis ranges from 1 missing tooth to marked oligodontia

•

en:treatment with riboflavin has been helpful in some patients

•

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

•

en:two families with different phenotypes have been reported (as of september 2010)

•

en:two main groups defined by age at onset: childhood (1 to 3 years) and onset after puberty

•

en:two patients from 1 italian family have been reported (as of april 2010)

•

en:two patients have been reported

•

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

•

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

•

en:teeth may undergo post-eruptive changes

•

en:two types of platelet gpiv deficiency - type i, absence gpiv on monocytes (173510.0005) and type ii, presence gpiv on monocytes (173510.0001)

•

en:two unrelated families and 1 isolated patient have been reported (last curated june 2012)

•

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

•

en:type iii is intermediate form

•

en:type i onset at 8 to 15 months of age after normal development

•

en:urine turns dark on standing and alkalinization

•

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

•

en:variability in extent of dislocation of lens and/or displacement of pupil, both within families and between eyes in a single individual

•

en:variable age at onset (range teenage to adult years)

•

en:variable features

•

en:variable locations

•

en:variable phenotype (myotonia may or may not be present)

•

en:vasculitic symptoms are associated with cold exposure (in some patients)

•

en:thiamine supplementation may be beneficial

•

en:symptoms precipitated by sudden movement, stress, exertion, fatigue

•

en:see also autosomal form, 146450, and another x-linked form, 300633

•

en:smaller repeat lengths in younger generations (reverse anticipation)

•

en:see also benign familial infantile convulsions (bfic1, 601764)

•

en:see also pachyonychia congenita, type 3 (pc1, 167200)

•

en:see also pgl2 (601650), pgl3 (605373), and pgl4 (115310)

•

en:see also the homozygous state, mosaic variegated aneuploidy (mva, 257300)

•

en:see also the non-herlitz type of jeb (226650), a less severe disorder

•

en:segmental distribution often affecting 1 limb

•

en:severe infections in untreated patients with neutropenia

•

en:skin lesions improve in the summer

•

en:skin lesions on back, face, nape of neck, and waist tend to be mild

•

en:skin lesion appear shortly after birth and tend to disappear in young adulthood

•

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

•

en:sleep terrors usually remit during adolescence

•

en:slow, progressive growth, then stable

•

en:some laboratory abnormalities may fluctuate or improve with time

•

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

•

en:some patients do not reach end-stage renal failure

•

en:some patients experience later reversal of hypogonadotropic hypogonadism

•

en:some patients have a secreted but biologically inactive mutant leptin

•

en:some patients have isolated cfeom

•

en:some patients may be asymptomatic if diagnosed early and properly managed during metabolic crises

•

en:some patients require insulin for treatment

•

en:spectrum of malformations resulting from impaired midline cleavage of the embryonic forebrain

•

en:spontaneous tumor regression may occur

•

en:sudden death in affected males occurs in teens

•

en:survival to advanced age

•

en:surviving males are postzygotic mosaic for ebp mutations

•

en:symptoms benefit from sleep

•

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

•

en:onset in the first months of life (3 to 7 months)

•

en:onset in first decade (birth to age 5 years)

•

en:feeding difficulties, including aspiration, ameliorate with age

•

en:increased risk of bilateral breast cancer

•

en:highly variable phenotype and severity

•

en:high frequency seizures

•

en:high prevalence in the east asian population

•

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

•

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

•

en:improvement of epimetaphyseal changes with age

•

en:incidence 1/20,000-1/64,000 male births

•

en:incidence approximately 2-3/10,000 newborns

•

en:incidence of 1 in 100 in some local nordic areas

•

en:incidence of 1 in 40,000 infants worldwide

•

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

•

en:increased aneuploidy in offspring

•

en:increased frequency in individuals originating from western scotland

•

en:increased spontaneous abortions in carrier mothers

•

en:heterozygous titin mutation causes the less-severe tardive tibial muscular dystrophy (600334)

•

en:infantile form (gene deletion 'complex' with glycerol kinase deficiency and/or duchenne muscular dystrophy and/or congenital adrenal hypoplasia)

•

en:infantile onset

•

en:infants are stillborn or die shortly after birth

•

en:intermediate: onset in first decade with slow progression or onset in second decade with rapid progression

•

en:intermittent pyrexia

•

en:juvenile patients have slower clinical course with preserved intellect, bulbar signs, ataxia, and spasticity

•

en:later onset may occur (1 to 11 years)

•

en:lethal in first weeks of life

•

en:life-threatening in infancy due to sepsis

•

en:liveborn often die within first week of life

•

en:low physical performance

•

en:majority of cases are secondary to de novo mutation

•

en:majority of cases have bilateral involvement

•

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

•

en:heterozygous female carriers may manifest symptoms

•

en:majority of individuals are healthy

•

en:genetic heterogeneity, see edm1 (132400), edm2 (600204), edm3 (600969), and edm5 (607078)

•

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

•

en:female carriers may have mild hearing impairment and/or mild signs of choroideremia

•

en:female to male ratio 8-13:1

•

en:findings in muscle biopsy may be variable

•

en:five reported patients, all boys (as of july 2009)

•

en:fluoxetine therapy may be effective

•

en:following fever in infancy, muscular weakness and poor growth

•

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

•

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

•

en:four unrelated families of caucasian european descent have been reported (last curated february 2015)

•

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

•

en:full mutations with expanded trinucleotide repeats greater than 200 result in fragile x mental retardation syndrome (300624)

•

en:gei (gene-environment interaction) - association of cardiac events with drug administration

•

en:genetic heterogeneity (see, e.g., 609378, 608636, 608049, 300425, 300495, 300496)

•

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

•

en:genetic heterogeneity (see 125800)

•

en:genetic heterogeneity (see 259700)

•

en:genetic heterogeneity (see 604559)

•

en:genetic heterogeneity (see 606215)

•

en:genetic heterogeneity (see 610168)

•

en:genetic heterogeneity (see lqt1 192500)

•

en:genetic heterogeneity (see mcc2 deficiency 210210)

•

en:gypsy groups demonstrate a founder effect (1267delg, 100725.0012)

•

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

•

en:hair tends to straighten by 2nd-3rd decade

•

en:hearing impairment may improve with age

•

en:hearing loss and hoarseness occur later

•

en:heterozygotes are not affected

•

en:majority of cases occur in brazilian population

•

en:majority of patients are pyridoxine-responsive

•

en:onset in first 2 decades of life

•

en:onset at 5-24 months

•

en:one consanguineous family with a recessive mutation has been reported (last curated june 2015)

•

en:one consanguineous pakistani family has been reported (last curated june 2015)

•

en:one family and an unrelated patient have been reported (last curated january 2016)

•

en:one family has been reported (last curated september 2015)

•

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

•

en:one lebanese family has been reported

•

en:one patient has been reported (last curated december 2014)

•

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

•

en:one patient has been reported (last curated march 2016)

•

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

•

en:one patient has been reported (last curated november 2013)

•

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

•

en:onset 0-12 hours after birth

•

en:onset at 6-9 months

•

en:often refractory to medical therapy

•

en:onset before adolescence

•

en:onset between 15 and 27 years

•

en:onset between 7 and 27 years of age

•

en:onset between age 30-50 years

•

en:onset from birth

•

en:onset in 1st to 3rd decade of life

•

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

•

en:onset in childhood (range 2 to 16 years)

•

en:onset in childhood (range infancy to 14 years)

•

en:onset in childhood or adolescence (range 6 to 15 years)

•

en:onset in early adulthood (average 26 years)

•

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

•

en:onset in early to late childhood

•

en:one consanguineous family of ashkenazi jewish origin has been reported (last cureated may 2012)

•

en:often identified in newborn period

•

en:many cases due to de novo mutation

•

en:minimum region of duplication is a 9.1-kb region located 40kb 5-prime of the ihh gene

•

en:many patients require cardiac pacemakers

•

en:many studies have reported that the phenotype of tuberous sclerosis-2 (tsc2) is more severe than that of tuberous sclerosis-1 (e.g., lower iq, more seizures, more macules, cust-like cortical tubers)

•

en:maternal imprinting

•

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

•

en:may occur cormorbidly with poland syndrome (173800)

•

en:may progress to other body regions after many years

•

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

•

en:mean age at onset 41 years (range 18 to 61)

•

en:mean age at onset 57-60 years

•

en:mean age at onset of dementia is 57 years

•

en:mean age of diagnosis 40 years

•

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

•

en:mild cases show clinical, biochemical, and mri improvement after the second year of life

•

en:more common in men (9:1 male:female ratio)

•

en:oculomotor apraxia is not always present

•

en:more frequent in males

•

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

•

en:mother had rubella infection during pregnancy with daughter

•

•

en:mutation in b3gat3 has been found in 1 emirati family and 1 emirati boy

•

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

•

en:neuropsychiatric manifestations are variable

•

en:night blindness from early childhood

•

en:nonprogressive or very slowly progressive

•

en:nonreflex epilepsy may occur later in 16 to 38% of patients

•

en:normal fertility

•

en:no cardiac or immune defects in patients from the 2 reported families

•

en:no opportunistic infections

•

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

◀

• Mathieu Lafourcade • LIRMM (données libres en Creative Commons - C0 domaine public) •

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6946737 • caches: c1=8 c2=1003 c3=1

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