autosomal recessive intellectual developmental disorder 40

An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TAF2 gene on chromosome 8q24.

Signs and symptoms

• Abnormal foot morphology
• Microcephaly
• Delayed speech and language development
• Hypoplasia of the corpus callosum
• Global developmental delay
• Secondary microcephaly
• Intellectual disability
• Delayed CNS myelination
• Spasticity
• Hyperreflexia