autosomal recessive intellectual developmental disorder 60

An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TAF13 gene on chromosome 1p13.

Signs and symptoms

• Microcephaly
• Mild intellectual disability
• Delayed skeletal maturation
• Small for gestational age
• Global developmental delay
• Delayed puberty
• Delayed CNS myelination
• Short stature