primary autosomal recessive microcephaly 25

A primary autosomal recessive microcephaly that has_material_basis_in homozygous mutation in the MAP11 gene on chromosome 7q22.

Signs and symptoms

• Delayed speech and language development
• Hypoplasia of the corpus callosum
• Global developmental delay
• Primary microcephaly
• Attention deficit hyperactivity disorder
• Intellectual disability
• Tethered cord
• Filum terminale lipoma