| Term Name: | syndromic X-linked intellectual developmental disorder, Snijders Blok type |
|---|---|
| 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. |
| Ontology: | Human Disease [DOID:0070777] ( DOID:0070777 ) |