ALG3-congenital disorder of glycosylation
A form of congenital disorders of N-linked glycosylation characterized by severe neurological involvement, including hypotonia, developmental delay, intellectual disability, postnatal microcephaly, and progressive brain and cerebellar atrophy. Epilepsy with hypsarrythmia is frequently reported. Additional features that may be observed include failure to thrive, arthrogryposis multiplex congenita (AMC), vision impairment (optic atrophy, iris coloboma) and facial dysmorphism (hypertelorism with a broad nasal bridge, large and thick ears, thin lips, micrognathia). The disease is caused by loss of function mutations of the gene ALG3 (3q27.3).
MONDO:0005500
congenital disorder of glycosylation type I
is_a
MONDO:0017740
disorder of protein N-glycosylation
is_a
ALG3-CDG
exact
ALG3-CDG (CDG-Id)
related
ALG3-congenital disorder of glycosylation
exact
CDG 1D
related
CDG syndrome type Id
exact
CDG-Id
exact
CDG1D
exact
CDGId
exact
CDGS4 (formerly)
related
carbohydrate deficient glycoprotein syndrome type Id
exact
carbohydrate-deficient glycoprotein syndrome type IV (formerly)
related
congenital disorder of glycosylation type 1d
exact
congenital disorder of glycosylation type Id
exact
congenital disorder of glycosylation, type Id
related
mannosyltransferase 6 deficiency
exact
SPAC7D4.06c