syndromic X-linked intellectual developmental disorder, Snijders Blok type

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

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.

Signs and symptoms

• Intellectual disability
• Hypotonia
• Spasticity
• Brachycephaly
• Anteverted nares
• Hypertelorism
• Bulbous nose
• Wide nasal bridge
• Long face
• Broad-based gait

Also known as: MRXSSB; intellectual developmental disorder, X-linked, syndromic, Snijders Blok type