OBO ID: DOID:0080230
Term Name: autosomal dominant intellectual developmental disorder 54 Search Ontology:
Synonyms:
  • autosomal dominant mental retardation 54
Definition: An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the CAMK2B gene on chromosome 7p13. https://pubmed.ncbi.nlm.nih.gov/29100089/
References:
Ontology: Human Disease   (DOID:0080230)
OTHER autosomal dominant intellectual developmental disorder 54 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CAMK2B Intellectual developmental disorder, autosomal dominant 54 617799
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None