ZFIN Human Disease: congenital disorder of glycosylation Iq

OBO ID: DOID:0080568

Term Name:	congenital disorder of glycosylation Iq		Search Ontology:
Synonyms:	congenital disorder of glycosylation 1q
Definition:	A congenital disorder of glycosylation I that is characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions and has_material_basis_in homozygous or compound heterozygous mutation in the SRD5A3 gene on chromosome 4q12. https://www.ncbi.nlm.nih.gov/pubmed/20637498
References:	GARD:12397 OMIM:612379 ORDO:324737
Ontology:	Human Disease ( DOID:0080568 )

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 Iq PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
SRD5A3	srd5a3	Congenital disorder of glycosylation, type Iq	612379

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None