Term Name: | Stocco Dos Santos type X-linked intellectual disability |
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Synonyms: | SDSX, Stocco dos Santos X-linked mental retardation syndrome |
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. |
Ontology: | Human Disease [DOID:0112126] ( DOID:0112126 ) |