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Disease Ontology Browser
Harel-Tora neurodevelopmental syndrome (DOID:0070711)
Alliance: disease page
Alt IDs: OMIM:621377
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
06/09/2026
MGI 6.24 		The Jackson Laboratory