syndromic X-linked intellectual disability 94

A syndromic X-linked intellectual disability characterized by moderate intellectual disability with variable occurrence of asthenic body habitus, dysmorphic features, autistic features, macrocephaly, seizures, myoclonic jerks, and hyporeflexia that has_materia

A syndromic X-linked intellectual disability characterized by moderate intellectual disability with variable occurrence of asthenic body habitus, dysmorphic features, autistic features, macrocephaly, seizures, myoclonic jerks, and hyporeflexia that has_material_basis_in mutation in the GRIA3 gene on chromosome Xq25.

Signs and symptoms

• Hypertonia
• Severe intellectual disability
• Interictal epileptiform activity
• Focal tonic seizure
• Aggressive behavior
• Ventriculomegaly
• Intellectual disability
• Prominent supraorbital ridges
• Hyperreflexia
• Limb tremor

Also known as: MRX94; MRXS29; mental retardation, X-linked 94; syndromic X-linked intellectual disability due to GRIA3 anomalies; syndromic X-linked mental retardation 29