Disease association ontology term - MONDO:0013266 - neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
Term summary
- ID
- MONDO:0013266
- Name
- neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
- Ontology or CV name
- Disease association
- Definition
- Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the MEF2C gene.