Term Name: congenital disorder of glycosylation Ic
Synonyms: congenital disorder of glycosylation 1c
Definition: A congenital disorder of glycosylation I that is characterized by psychomotor retardation with delayed walking and speech, hypotonia, seizures, and sometimes protein-losing enteropathy and has_material_basis_in homozygous or compound heterozygous mutation in the ALG6 gene on chromosome 1p31.
Ontology: Human Disease [DOID:0080555]   ( DOID:0080555 )

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