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ZIRC
OBO ID: DOID:0070050
Term Name: autosomal dominant mental retardation 20 Search Ontology:
Synonyms:
  • mental retardation, autosomal dominant 20
  • MRD20
Definition: An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of MEF2C on chromosome 5q14.3.https://www.ncbi.nlm.nih.gov/pubmed/20513142
References:
Ontology: Human Disease   (DOID:0070050)
OTHER autosomal dominant mental retardation 20 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MEF2C Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations 613443
Chromosome 5q14.3 deletion syndrome 613443
ZEBRAFISH MODELSNo data available
PHENOTYPE No data available

CITATIONS: None