Term Name: Harel-Yoon syndrome
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 )

Relationships
is a type of: autosomal dominant disease autosomal recessive disease syndrome