Harel-Yoon syndrome (DOID:0081395)
Alliance: disease page
Synonyms: Ocular anomalies-axonal neuropathy-developmental delay syndrome
Alt IDs: OMIM:617183, ORDO:496790
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.