OBO ID: DOID:0070049
Term Name: autosomal dominant non-syndromic intellectual disability 19 Search Ontology:
Synonyms:
  • autosomal dominant mental retardation 19
  • MRD19
Definition: An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of CTNNB1 on chromosome 3p22.1. https://www.ncbi.nlm.nih.gov/pubmed/23033978
References:
Ontology: Human Disease   (DOID:0070049)
OTHER autosomal dominant non-syndromic intellectual disability 19 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CTNNB1 Neurodevelopmental disorder with spastic diplegia and visual defects 615075
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None