ZFIN Human Disease: congenital disorder of glycosylation Ix

OBO ID: DOID:0080573

OBO ID: DOID:0080573

Term Name:	congenital disorder of glycosylation Ix	Search Ontology:
Synonyms:	congenital disorder of glycosylation 1x
Definition:	A congenital disorder of glycosylation I that is characterized by intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties and has_material_basis_in homozygous mutation in the STT3B gene on chromosome 3p23. https://www.ncbi.nlm.nih.gov/pubmed/23842455
References:	OMIM:615597 ORDO:370924
Ontology:	Human Disease (DOID:0080573)

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 Ix PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
STT3B	stt3b	?Congenital disorder of glycosylation, type Ix	615597

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None

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