congenital disorder of glycosylation Ik

Term ID

DOID:0080563

Synonyms

congenital disorder of glycosylation 1k

Definition

A congenital disorder of glycosylation I that is characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding beta-1,4-mannosyltransferase on chromosome 16p13. (2)

References

GARD:9838
MIM:608540
ORDO:79327

Ontology

Human Disease ( DOID:0080563 )

Relationships

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

autosomal recessive disease congenital disorder of glycosylation type I Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models