Term Name: congenital disorder of glycosylation Id
Synonyms: congenital disorder of glycosylation 1d
Definition: A congenital disorder of glycosylation I that is characterized by severe neurologic involvement associated with dysmorphism and visual impairment and has_material_basis_in homozygous or compound heterozygous mutation in the ALG3 gene on chromosome 3q27.
Ontology: Human Disease [DOID:0080556]   ( DOID:0080556 )

Relationships
is a type of: autosomal recessive disease congenital disorder of glycosylation type I