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Human Disease

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
Ontology
Human Disease   ( DOID:0080563 )
Relationships
is a type of
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Genes Involved
Zebrafish Models