autosomal recessive intellectual developmental disorder 66

An autosomal recessive intellectual developmental disorder that is characterized by delayed speech development, neuropsychiatric symptoms, and relatively normal life span and that has_material_basis_in homozygous mutation in the C12ORF4 gene on chromosome 12p1

An autosomal recessive intellectual developmental disorder that is characterized by delayed speech development, neuropsychiatric symptoms, and relatively normal life span and that has_material_basis_in homozygous mutation in the C12ORF4 gene on chromosome 12p13.

Signs and symptoms

• Delayed speech and language development
• Global developmental delay
• Attention deficit hyperactivity disorder
• Intellectual disability
• Generalized hypotonia
• Joint hypermobility
• Abnormal facial shape
• Gait ataxia
• Excessive shyness
• Aggressive behavior