ZFIN Human Disease: congenital disorder of glycosylation Iu

OBO ID: DOID:0080571

Term Name:	congenital disorder of glycosylation Iu		Search Ontology:
Synonyms:	congenital disorder of glycosylation 1u
Definition:	A congenital disorder of glycosylation I that is characterized by respiratory distress and severe hypotonia at birth, severe global developmental delay, early-onset intractable seizures, myopathic fascies with craniofacial dysmorphism (trigonocephaly/progressive microcephaly, low anterior hairline, arched eyebrows, hypotelorism, strabismus, small nose, prominent philtrum, thin upper lip, high-arched palate, micrognathia, malocclusion), severe, congenital flexion joint contractures and elevated serum creatine kinase levels and has_material_basis_in homozygous or compound heterozygous mutation in the DPM2 gene on chromosome 9q34. https://www.ncbi.nlm.nih.gov/pubmed/23109149
References:	GARD:12416 OMIM:615042 ORDO:329178
Ontology:	Human Disease ( DOID:0080571 )

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 Iu PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
DPM2	dpm2	Congenital disorder of glycosylation, type Iu	615042

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None