Search Ontology:
Human Disease
Harel-Tora neurodevelopmental syndrome
- Term ID
- DOID:0070711
- Synonyms
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- 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. https://pubmed.ncbi.nlm.nih.gov/38753057/
- References
- Ontology
- Human Disease ( DOID:0070711 )
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Genes Involved
Zebrafish Models