Diko : en:three unrelated boys have been reported (as of july 2011)

en:three unrelated boys have been reported (as of july 2011)

Catégories

Nom

Informations lexicales

Langue:anglais

Liens externes

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umls:C3279806

Associations d'idées

[F]

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199

en:arthralgia

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en:possible x-linked dominant inheritance

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en:visual impairment is present at birth and is progressive

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en:recurrent bacterial infection

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

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en:some patients may lose independent ambulation

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

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en:prevalent among the amish

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

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en:sensorineural hearing loss may be presenting feature

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en:variable features present

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en:prelingual onset

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en:severe ambulatory restriction

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

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en:some patients may not present until adulthood

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en:presence of additional features is variable

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en:variable expression

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

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en:precipitated by general anesthesia

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

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en:subset of patients have leigh syndrome (256000)

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en:subtype 3a comprises myoclonus and dementia

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en:multiple prenatal fractures

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en:small placenta

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en:precipitated by fever

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en:some patients may present with myopathic features

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en:three

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en:virtually all patients with this condition are female

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en:some patients show a favorable response to sulfonylurea treatment

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

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

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en:variable phenotype, particularly with regard to cortical malformations

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en:premature aging syndrome

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en:slight male predominance (3:2)

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en:sudden death within first days of life

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en:precipitated by fatigue or alcohol

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en:prevalence of true hypoprothrombinemia is 1 in 2 million

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en:skeletal and facial features are variable

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en:prevalence estimated at 1 in 50,000

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en:progressive clinical course with onset in childhood

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

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en:some patients show improvement during summer or with fever

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

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

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anomalie congénitale

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

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

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en:congenital abnormality

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en:hearing loss affects all frequencies

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

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en:poor response to l-dopa

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en:variable age at onset, first to second decades

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en:fatal without lung transplant

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

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en:favorable response to ursodeoxycholic acid treatment

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en:episodes are triggered by cold exposure

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

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en:evidence of systemic iron overload seen in 1 family

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en:episodes brought on by fasting or infection

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

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en:dramatic improvement with proper treatment

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en:episodes tend to decrease with age

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en:early death (in some patients)

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

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en:death in early childhood may occur

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en:death often in the teenage years

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en:features are variable

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en:heterozygotes may exhibit syndromic manifestations

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en:glucocorticoid deficiency occurs in mid-childhood

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en:individuals do not develop erythrocytosis under hypoxic conditions

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en:hearing loss is usually severe by age 20 years

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

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en:hyperpigmented patches increased in size and number with age

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en:incidence of 1 in 300,000

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

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en:heterozygotes exhibit blue sclerae and soft velvety skin

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en:feet are unaffected in some patients

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

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

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en:increased susceptibility to malignant hyperthermia

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

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en:early death often occurs from cardiac failure or infection

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en:death usually in infancy due to respiratory failure

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en:hearing loss ma be fluctuating or progressive

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en:heterozygous female carriers may manifest symptoms

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

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en:neonatal sepsis

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en:dysmorphic facial features reported in 1 family

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en:sexual infantilism

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en:likely allelic to sc phocomelia syndrome (269000)

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en:polyhydramnios

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

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en:tumor suppressor gene

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en:congenital anomaly

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en:later onset of hearing loss in some patients

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en:neonatal death

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en:all reported mutations have occurred de novo

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en:associated with iron deficiency anemia

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en:onset in early infancy

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en:incidence of 1 in 10,000 live births

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

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

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en:pyogenic arthritis, pyoderma gangrenosum and acne

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

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en:clonidine can alleviate hyperhidrosis

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en:adult onset from second to seventh decade

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en:death in utero or in early infancy is common

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en:blistering may worsen during the summer

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en:death in the first years of life

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

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en:caused by somatic mutations

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en:chelation therapy can result in clinical improvement

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en:ataxia is nonprogressive

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en:twenty-five percent of affected babies are stillborn

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en:approximately half of the mutations are de novo

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en:aortic dissection may occur in second decade of life

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

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en:may result in sudden death

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en:opportunistic infection

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en:no situs inversus

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en:miscellaneous

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en:intrafamilial variability in nail changes

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

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en:intrafamilial variability in degree of hypotrichosis

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en:short umbilical cord

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pathologie congénitale

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déformation congénitale

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maladie congénitale

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algie articulaire

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douleur articulaire

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douleur dans une articulation

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arthralgie

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en:stokes-adams syndrome

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déficience congénitale

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malformation congénitale

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septicémie néonatale

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septicémie du nouveau-né

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polyhydramnios

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

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difformité congénitale

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en:congenital malformation

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mort néonatale

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en:major physical defect

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en:polyhydramnion

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Maladie congénitale

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anomalie du développement

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en:developmental fault

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hydramnios

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présentation du siège

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en:physical defect

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en:birth defect

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en:teratosis

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tare congénitale

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en:Stokes-Adams syndrome

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vice de conformation

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en:single umbilical artery

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en:joint pain

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en:congenital defect

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mort du nouveau-né

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en:loss of independent ambulation in the second decade

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

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en:intrafamilial variability in severity of hypothyroidism

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

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en:hearing loss progresses to profound deafness

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en:lesions increase in size and number with age

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en:high pain threshold

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en:lipodystrophic appearance may be mild or not present

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

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en:males carry mutations in the somatic mosaic state

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en:incidence of 1 in 250,000 births

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en:incomplete, but high, penetrance

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

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

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en:later onset in females

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

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en:l-dopa-induced dyskinesias

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

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

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

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en:many features are present only in an untreated patient

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

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en:many patients require cardiac pacemakers

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en:marked phenotypic variability, even within an individual

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

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en:incidence of 1 in 25,000 livebirths

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en:increased risk of developing early-onset aggressive cancers

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

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en:many cases due to de novo mutation

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en:may be lethal if untreated

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en:heterozygous carriers exhibit palmoplantar hyperkeratosis (see 148700)

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en:male patients have more severe disease than female patients

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en:males are more severely affected

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en:may result in early death from severe diarrhea

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en:maternal oligohydramnios

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en:may be fatal in infancy

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en:breech presentation

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