/ALG3-congenital disorder of glycosylation

ALG3-congenital disorder of glycosylation

Rare Disease

MONDO:0010998

Also Known As

ALG3-CDGALG3-congenital disorder of glycosylationCDG syndrome type IdCDG-IdCDG1DCDGIdcarbohydrate deficient glycoprotein syndrome type Idcongenital disorder of glycosylation type 1dcongenital disorder of glycosylation type Idmannosyltransferase 6 deficiencyALG3-CDG (CDG-Id)CDG 1DCDG IdCDGS, type IVCDGS, type IV, formerlyCDGS4 (formerly)carbohydrate-deficient glycoprotein syndrome type IV (formerly)carbohydrate-deficient glycoprotein syndrome, type IVcarbohydrate-deficient glycoprotein syndrome, type IV, formerlycongenital disorder of glycosylation, type Id

Definition

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).