Autosomal recessive hereditary disorder	Disorder of glycoprotein metabolism
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N-glycanase 1 congenital disorder of deglycosylation (disorder)
	NGLY1-congenital disorder of deglycosylation
	Alacrimia, choreoathetosis, liver dysfunction syndrome Deficiency of N-glycanase 1 N-glycanase 1 congenital disorder of deglycosylation
	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.
	congenitaal defect in deglycosylering door N-glycanase 1

Id	768846004
Status	Primitive

Occurrence

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	E77.8
Rule	TRUE
Advice	ALWAYS E77.8
Correlation	SNOMED CT source code to target map code correlation not specified