| Metadata | |
|---|---|
| ID | DOID:0080311 |
| Name | Billuart-type X-linked syndromic intellectual developmental disorder |
| Definition | A syndromic X-linked intellectual disability characterized by moderately to severely impaired intellectual development, cerebellar hypoplasia, and seizures that has_material_basis_in mutation in the oligophrenin-1 gene on chromosome Xq12. https://pubmed.ncbi.nlm.nih.gov/20528889/, https://www.ncbi.nlm.nih.gov/pubmed/16158428 |
| Xrefs | |
| Synonyms |
X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance [EXACT] |
| Parent Relationships |