syndromic X-linked intellectual disability 5

A syndromic X-linked intellectual disability characterized by intellectual disability and variable features including choreoathetosis, hydrocephalus, Dandy-Walker malformation, seizures, and iron or calcium deposition in the brain that has_material_basis_in mu

A syndromic X-linked intellectual disability characterized by intellectual disability and variable features including choreoathetosis, hydrocephalus, Dandy-Walker malformation, seizures, and iron or calcium deposition in the brain that has_material_basis_in mutation in the AP1S2 gene on chromosome Xp22.

Signs and symptoms

• Hypotonia
• Global developmental delay
• Delayed ability to walk
• Moderate intellectual disability
• Flexion contracture
• Seizure
• Gait ataxia
• Coarse facial features
• Severe intellectual disability
• Prominent forehead

Also known as: Fried syndrome; MRX59; MRXS21; Mental retardation, X-linked syndromic 5; Pettigrew syndrome