Harel-Yoon syndrome

Term ID

DOID:0081395

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. https://pubmed.ncbi.nlm.nih.gov/27640307/

References

• MIM:617183
• ORDO:496790

Ontology

Human Disease   ( DOID:0081395 )