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Disease Ontology Browser
Stocco Dos Santos type X-linked intellectual disability (DOID:0112126)
Alliance: disease page
Synonyms: SDSX; Stocco dos Santos X-linked mental retardation syndrome
Alt IDs: OMIM:300434, ORDO:85288
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.

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11/12/2024
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