syndromic X-linked intellectual disability 34

A syndromic X-linked intellectual disability characterized by delayed psychomotor development, intellectual disability, impaired speech, dysmorphic facial features, and mild structural brain abnormalities, including thickening of the corpus callosum that has_m

A syndromic X-linked intellectual disability characterized by delayed psychomotor development, intellectual disability, impaired speech, dysmorphic facial features, and mild structural brain abnormalities, including thickening of the corpus callosum that has_material_basis_in mutation in the NONO gene on chromosome Xq13.

Signs and symptoms

• Hypotonia
• Ataxia
• Autism
• Dental crowding
• Pes planus
• Intellectual disability
• Kyphoscoliosis
• Perseverative thought
• Global developmental delay
• Speech apraxia

Also known as: MRXS34; MRXSML; macrocephaly-intellectual disability-left ventricular non compaction syndrome; mental retardation, X-linked, syndromic 34; syndromic X-linked mental retardation Mircsof-Langouet type