syndromic X-linked intellectual disability Najm type

A syndromic X-linked intellectual disability characterized by severe intellectual disability, microcephaly with pontine and cerebellar hypoplasia that has_material_basis_in heterozygous mutation or deletion in the CASK gene on chromosome Xp11.

Signs and symptoms

• Hypoplasia of the pons
• Microcephaly
• Absent speech
• Feeding difficulties
• Global developmental delay
• Hypoplasia of the brainstem
• Cerebellar hypoplasia
• Delayed ability to walk
• Simplified gyral pattern
• Delayed ability to sit

Also known as: MICPCH; X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome; mental retardation and microcephaly with pontine and cerebellar hypoplasia