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
• OMIM:608540
• ORDO:79327

Ontology

Human Disease   ( DOID:0080563 )