| Metadata | |
|---|---|
| ID | DOID:0111781 |
| Name | Waisman syndrome |
| Definition | A syndrome characterized by delayed psychomotor development, impaired intellectual development, and early-onset Parkinson disease that has_material_basis_in hemizygous or homozygous mutation in the RAB39B gene on chromosome Xq28. https://www.ncbi.nlm.nih.gov/pubmed/25434005 |
| Xrefs | |
| Synonyms |
early-onset parkinsonism-intellectual disability syndrome [EXACT] Laxova-Opitz syndrome [EXACT] |
| Parent Relationships |
is_a syndrome |
| Subclass Logical Relationships |
has material basis in some X-linked recessive inheritance |