FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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Term neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ID (Ontology) DOID:0070050 (Human Disease)
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.
Also Known As "autosomal dominant mental retardation 20" ; "mental retardation, autosomal dominant 20" ; "MRD20"
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 neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language       1
 for disease ribbon | neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language       1
 model of | neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language       1
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autosomal dominant disease__
intellectual disability_____|
                            autosomal dominant intellectual developmental disorder
                             |__neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language  1 rec.
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Is a autosomal dominant intellectual developmental disorder
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Synonyms
  • "autosomal dominant mental retardation 20" EXACT
    "mental retardation, autosomal dominant 20" EXACT
    "MRD20" EXACT OMO:0003012
Secondary IDs
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MIM:613443