primary autosomal recessive microcephaly 15

A primary autosomal recessive microcephaly characterized by impaired intellectual development with poor speech, progressive microcephaly, and appendicular spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the MFSD2A gene on

A primary autosomal recessive microcephaly characterized by impaired intellectual development with poor speech, progressive microcephaly, and appendicular spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the MFSD2A gene on chromosome 1p34.

Signs and symptoms

• Poor head control
• Inability to walk
• Hypoplasia of the brainstem
• Hypotonia
• Severe intellectual disability
• Ventriculomegaly
• Hyperreflexia
• Microcephaly
• Absent speech
• Cerebellar hypoplasia

Also known as: MCPH15; NEDMISBA; neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities