Visualize Submit Comment
Metadata
ID DOID:0080557
Name congenital disorder of glycosylation Ie
Definition A congenital disorder of glycosylation I that is characterized by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly and has_material_basis_in homozygous or compound heterozygous mutation in the DPM1 gene on chromosome 20q13.
https://www.ncbi.nlm.nih.gov/pubmed/23856421
Xrefs

GARD:9831

OMIM:608799

ORDO:79322

Synonyms

congenital disorder of glycosylation 1e [EXACT]

Parent Relationships

is_a autosomal recessive disease

is_a congenital disorder of glycosylation type I

Add an item to the term tracker