| Metadata | |
|---|---|
| ID | DOID:0081395 |
| Name | Harel-Yoon 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/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
Ocular anomalies-axonal neuropathy-developmental delay syndrome [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance has material basis in some autosomal recessive inheritance |