OBO ID: DOID:0112126 |
Term Name: | Stocco Dos Santos type X-linked intellectual disability | Search Ontology: | |
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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/ | ||
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Ontology: | Human Disease ( DOID:0112126 ) |
OTHER Stocco Dos Santos type X-linked intellectual disability PAGES
GENES INVOLVED
No data available
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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