OBO ID: DOID:0070050 |
Term Name: | neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language | Search Ontology: | |
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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 | ||
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Ontology: | Human Disease ( DOID:0070050 ) |
OTHER neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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