Term Name:	congenital disorder of glycosylation Ip
Synonyms:	congenital disorder of glycosylation 1p
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.
Ontology:	Human Disease [DOID:0080567]   ( DOID:0080567 )