Metadata | |
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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 |