ZFIN Human Disease: congenital disorder of glycosylation type IIm

OBO ID: DOID:0070265

Term Name:	congenital disorder of glycosylation type IIm		Search Ontology:
Synonyms:	congenital disorder of glycosylation type 2m developmental and epileptic encephalopathy 22 epileptic encephalopathy, early infantile, 22 SLC35A2-CDG
Definition:	A congenital disorder of glycosylation type II that is characterized by infantile onset seizures, hypsarrhythmia, hypotonia, and severe intellectual disability with lack of speech and that has_material_basis_in X-linked dominant inheritance of hemizygous or heterozygous mutation in the SLC35A2 gene on chromosome Xp11.23. https://www.ncbi.nlm.nih.gov/pubmed/23561849
References:	GARD:12403 OMIM:300896 ORDO:356961
Ontology:	Human Disease ( DOID:0070265 )

Relationships

is a type of:	congenital disorder of glycosylation type II X-linked dominant disease congenital disorder of glycosylation type II X-linked dominant disease Show first 5 Terms

OTHER congenital disorder of glycosylation type IIm PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
SLC35A2	slc35a2	Congenital disorder of glycosylation, type IIm	300896

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None