Term Name: Harel-Tora neurodevelopmental syndrome
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 )

Relationships
is a type of: autosomal dominant intellectual developmental disorder