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congenitaal defect in deglycosylering door N-glycanase 1 (aandoening)
congenitaal defect in deglycosylering door N-glycanase 1
NGLY1-congenital disorder of deglycosylation
N-glycanase 1 congenital disorder of deglycosylation
Alacrimia, choreoathetosis, liver dysfunction syndrome
Deficiency of N-glycanase 1
An inherited disease with usual onset of signs in infancy. The severity of the signs and symptoms varies widely among people with the condition. Typical features include delayed development of speech and motor skills, hypotonia, choreoathetosis refractory seizures, problems with liver function, optic atrophy, alacrima. Caused by mutations in the NGLY1 gene. The enzyme produced from this gene N-glycanase 1, helps cells remove abnormal proteins. The gene mutation results in a severe reduction or absence of the enzyme function. Inherited in an autosomal recessive pattern.
Id768846004
StatusPrimitive
Occurrencecongenitaal
referentieset met complexe 'mapping' naar ICD-10
TargetE77.8
RuleTRUE
AdviceALWAYS E77.8
CorrelationSNOMED CT source code to target map code correlation not specified