autosomal dominant intellectual developmental disorder 71 with behavioral abnormalities

An autosomal dominant intellectual developmental disorder characterized by global developmental delay with hypotonia, speech delay, and variably impaired cognitive development that has_material_basis_in heterozygous mutation in the RFX7 gene on chromosome 15q2

An autosomal dominant intellectual developmental disorder characterized by global developmental delay with hypotonia, speech delay, and variably impaired cognitive development that has_material_basis_in heterozygous mutation in the RFX7 gene on chromosome 15q21.

Signs and symptoms

• Intellectual disability
• Delayed speech and language development
• Motor delay
• Autistic behavior
• Microcephaly
• Attention deficit hyperactivity disorder
• Sleep disturbance
• Aggressive behavior
• Anxiety
• Macrocephaly