| Metadata | |
|---|---|
| ID | DOID:0112126 |
| Name | Stocco Dos Santos type X-linked intellectual disability |
| Definition | A syndromic X-linked intellectual disability characterized by severe intellectual disability, hyperactivity, language delay, congenital hip luxation, short stature, kyphosis and recurrent respiratory infections that has_material_basis_in mutation in the SHROOM4 gene on chromosome Xp11.22. https://pubmed.ncbi.nlm.nih.gov/16249884/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
SDSX [EXACT] Stocco dos Santos X-linked mental retardation syndrome [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some X-linked inheritance |