| Term Name: | Harel-Tora neurodevelopmental syndrome |
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| Synonyms: | |
| Definition: | An autosomal dominant intellectual developmental disorder characterized by global developmental delay, hypotonia, delayed walking, variably impaired intellectual development with speech delay, and dysmorphic facial features that has_material_basis_in heterozygous mutation in the ATXN7L3 gene on chromosome 17q21. |
| Ontology: | Human Disease [DOID:0070711] ( DOID:0070711 ) |