Visualize Submit Comment

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	OMIM:300434 ORDO:85288
Subsets	DO_rare_slim
Synonyms	SDSX [EXACT] Stocco dos Santos X-linked mental retardation syndrome [EXACT]
Parent Relationships	is_a syndromic X-linked intellectual disability