Stocco Dos Santos type X-linked intellectual disability

Term ID

DOID:0112126

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. https://pubmed.ncbi.nlm.nih.gov/16249884/

References

• MIM:300434
• ORDO:85288

Ontology

Human Disease   ( DOID:0112126 )