Human genes for congenital disorder of glycosylation Ip
Congenital disorder of glycosylation Ip [DOID:0080567]
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.
Synonyms: congenital disorder of glycosylation Ip, congenital disorder of glycosylation Ips, DOID:0080567, congenital disorder of glycosylation 1p