OBO ID: DOID:0070050
Term Name: neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language Search Ontology:
Synonyms:
  • autosomal dominant mental retardation 20
  • mental retardation, autosomal dominant 20
  • MRD20
Definition: An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay with hypotonia, poor motor development with limited walking, impaired intellectual development with poor or absent speech, and behavioral abnormalities and that has_material_basis_in an autosomal dominant mutation of the MEF2C gene on chromosome 5q14.3. https://www.ncbi.nlm.nih.gov/pubmed/20513142
References:
Ontology: Human Disease   ( DOID:0070050 )
OTHER neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MEF2C Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language 613443
Chromosome 5q14.3 deletion syndrome 613443
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None