Term Name: | Harel-Yoon syndrome |
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Synonyms: | Ocular anomalies-axonal neuropathy-developmental delay syndrome |
Definition: | A syndrome that is characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy and that has_material_basis_in heterozygous mutation in the ATAD3A gene on chromosome 1p36. |
Ontology: | Human Disease [DOID:0081395] ( DOID:0081395 ) |