congenital disorder of glycosylation Ip (DOID:0080567)
Alliance: disease page
Synonyms: congenital disorder of glycosylation 1p
Alt IDs: OMIM:613661, ORDO:280071
Definition: A congenital disorder of glycosylation I that is characterized by facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding and has_material_basis_in homozygous or compound heterozygous mutation in the ALG11 gene on chromosome 13q14.