Term Name: congenital disorder of glycosylation Ir
Synonyms: congenital disorder of glycosylation 1r
Definition: A congenital disorder of glycosylation I that is characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction and has_material_basis_in compound heterozygous mutation in the DDOST gene on chromosome 1p36.
Ontology: Human Disease [DOID:0080569]   ( DOID:0080569 )

Relationships
is a type of: autosomal recessive disease congenital disorder of glycosylation type I