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Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
rareAny autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the MEF2C gene.
- Identifiers
- MONDO:0013266 OMIM:613443Orphanet:664410
- Causal genes
- MEF2C
- Also known as
- autosomal dominant non-syndromic intellectual disability caused by mutation in MEF2C · intellectual disability, autosomal dominant 20 · intellectual disability, autosomal dominant type 20 · MEF2C autosomal dominant non-syndromic intellectual disability · MEF2C Deficiency
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