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Metadata
ID	DOID:0070711
PURL	http://purl.obolibrary.org/obo/DOID_0070711 Copy Copied!
Name	Harel-Tora neurodevelopmental syndrome
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/
Xrefs	MIM:621377
SKOS	exactMatch MIM:621377
Subsets	DO_rare_slim
Parent Relationships	is_a autosomal dominant intellectual developmental disorder
Subclass Logical Relationships	has material basis in some autosomal dominant inheritance