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ZIRC
OBO ID: DOID:0080574
Term Name: congenital disorder of glycosylation Iy Search Ontology:
Synonyms:
  • congenital disorder of glycosylation 1y
Definition: A congenital disorder of glycosylation I that is characterized by neurologic abnormalities (global developmental delay in language, social skills and fine and gross motor development, intellectual disability, hypotonia, microcephaly, seizures/epilepsy), facial dysmorphism (deep set eyes, large ears, hypoplastic vermillion of upper lip, large mouth with widely spaced teeth), feeding problems often due to chewing difficulties and aversion to food with certain textures, failure to thrive, gastrointestinal abnormalities (reflux or vomiting) and strabismus and has_material_basis_in hemizygous mutation in the SSR4 gene on chromosome Xq28. https://www.ncbi.nlm.nih.gov/pubmed/26264460
References:
Ontology: Human Disease   (DOID:0080574)
OTHER congenital disorder of glycosylation Iy PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SSR4 Congenital disorder of glycosylation, type Iy 300934
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None