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syndromic X-linked intellectual developmental disorder, Snijders Blok type (DOID:0070777)
Alliance: disease page
Synonyms: intellectual developmental disorder, X-linked, syndromic, Snijders Blok type; MRXSSB
Alt IDs: OMIM:300958, ICD10CM:F78.A, ORDO:457260, UMLS_CUI:C5393299, UMLS_CUI:C5681121
Definition: A syndromic X-linked intellectual disability characterized by mildly to severely impaired intellectual development with variable other features including brain abnormalities, microcephaly, hypotonia, movement disorder and/or spasticity, ventricular enlargement, hypoplasia, and behavioral problems that has_material_basis_in heterozygous or hemizygous mutation in the DDX3X gene on Xp11. It occurs predominantly in females.

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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07/14/2026
MGI 6.24 		The Jackson Laboratory