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MIRAGE
neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
Summary
- Synonym
-
- MRD20
- autosomal dominant mental retardation 20
- mental retardation, autosomal dominant 20
- 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.
- Super Class
- autosomal dominant intellectual developmental disorder
External Links
- Disease Ontology
- DOID:0070050
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q06413 | Myocyte-specific enhancer factor 2C |
