ZFIN Human Disease: congenital disorder of glycosylation Ik

OBO ID: DOID:0080563

Term Name:	congenital disorder of glycosylation Ik		Search Ontology:
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 )

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 congenital disorder of glycosylation Ik PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
ALG1	alg1	Congenital disorder of glycosylation, type Ik	608540

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None