congenital disorder of deglycosylation 1
A rare autosomal recessive inherited disorder caused by mutations in the NGLY1 gene. It is characterized by developmental delay, hypotonia, abnormal involuntary movements, poor tear production, microcephaly, intractable seizures, abnormal eye movements, and liver abnormalities.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0019214
inborn carbohydrate metabolic disorder
is_a
MONDO:0031376
congenital disorder of deglycosylation
is_a
MONDO:0045010
glycoprotein metabolism disease
is_a
CDDG
broad
CDG1V
exact
NGLY1 Deficiency
exact
NGLY1 deficiency
exact
NGLY1-CDDG
exact
NGLY1-deficiency
exact
NGLY1-related congenital disorder of deglycosylation
exact
congenital disorder of deglycosylation
broad
congenital disorder of deglycosylation 1
exact
congenital disorder of deglycosylation;CDDG
broad
congenital disorder of glycosylation type IV
exact
congenital disorder of glycosylation, type IV
related
SPBC1709.14