OBO ID: DOID:0070068
Term Name: autosomal dominant intellectual developmental disorder 38 Search Ontology:
Synonyms:
  • autosomal dominant mental retardation 38
  • autosomal dominant non-syndromic intellectual disability 38
  • MRD38
  • PRELDS
  • psychomotor retardation, epilepsy, and language disability syndrome
Definition: An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the EEF1A2 gene on chromosome 20q13.33. https://www.ncbi.nlm.nih.gov/pubmed/24697219
References:
Ontology: Human Disease   ( DOID:0070068 )
OTHER autosomal dominant intellectual developmental disorder 38 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
EEF1A2 Intellectual developmental disorder, autosomal dominant 38 616393
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None