autosomal dominant intellectual developmental disorder 11

An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the EPB41L1 gene on chromosome 20q11.23.

Signs and symptoms

• Deeply set eye
• Global developmental delay
• Severe intellectual disability
• Feeding difficulties in infancy
• High forehead
• Midface retrusion
• Tarsal osteovalgus
• Intrauterine growth retardation
• Finger clinodactyly
• Atypical behavior

Also known as: MRD11; autosomal dominant mental retardation 11; autosomal dominant non-syndromic intellectual disability 11