autosomal dominant intellectual developmental disorder 35

An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PPP2R5D gene on chromosome 6p21.1.

Signs and symptoms

• Hypotonia
• Intellectual disability
• Delayed speech and language development
• Delayed ability to walk
• Global developmental delay
• Gait ataxia
• Hypertelorism
• Facial hypotonia
• Open mouth
• Absent speech

Also known as: MRD35; autosomal dominant mental retardation 35; autosomal dominant non-syndromic intellectual disability 35