ZFIN Human Disease: congenital disorder of glycosylation In

OBO ID: DOID:0080566

Term Name:	congenital disorder of glycosylation In		Search Ontology:
Synonyms:	congenital disorder of glycosylation 1n
Definition:	A congenital disorder of glycosylation I that is characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive, myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder, roving eyes, developmental delay, poor to absent visual contact, and sensorineural hearing loss and has_material_basis_in homozygous or compound heterozygous mutation in the RFT1 gene on chromosome 3p21. https://www.ncbi.nlm.nih.gov/pubmed/23111317
References:	GARD:12394 OMIM:612015 ORDO:244310
Ontology:	Human Disease ( DOID:0080566 )

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 In PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
RFT1	rft1	Congenital disorder of glycosylation, type In	612015

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None