autosomal recessive intellectual developmental disorder 43

An autosomal recessive intellectual developmental disorder that is characterized by impaired intellectual development, poor language skills, short stature, and dysmorphic features and that has_material_basis_in homozygous mutation in the KIAA1033 gene (WASHC4)

An autosomal recessive intellectual developmental disorder that is characterized by impaired intellectual development, poor language skills, short stature, and dysmorphic features and that has_material_basis_in homozygous mutation in the KIAA1033 gene (WASHC4) on chromosome 12q23. Some patients may have significant motor delays.

Signs and symptoms

• Delayed speech and language development
• Short stature
• Delayed ability to walk
• Profound intellectual disability
• Global developmental delay
• Hypotonia
• Delayed fine motor development
• Profound global developmental delay
• Broad nasal tip
• Intellectual disability