congenital disorder of glycosylation Ic (DOID:0080555)
Alliance: disease page
Synonyms: congenital disorder of glycosylation 1c
Alt IDs: OMIM:603147, ORDO:79320
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.