syndromic X-linked intellectual developmental disorder, Snijders Blok type

Term ID

DOID:0070777

Synonyms

• intellectual developmental disorder, X-linked, syndromic, Snijders Blok type
• MRXSSB

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. (3)

References

• GARD:12715
• ICD10CM:F78.A
• MIM:300958
• ORDO:457260
• SNOMEDCT_US_2026_03_01:1254654006
• UMLS_CUI:C5393299
• UMLS_CUI:C5681121

Ontology

Human Disease   ( DOID:0070777 )