Visualize Submit Comment

Metadata
ID	DOID:0080567
Name	congenital disorder of glycosylation Ip
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. https://www.ncbi.nlm.nih.gov/pubmed/22213132
Xrefs	GARD:12396 MIM:613661 ORDO:280071
Subsets	DO_rare_slim
Synonyms	congenital disorder of glycosylation 1p [EXACT]
Parent Relationships	is_a autosomal recessive disease is_a congenital disorder of glycosylation type I