neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy

An autosomal recessive intellectual developmental disorder characterized by severe global developmental delay with poor motor and intellectual function apparent soon after birth; postnatal progressive microcephaly; and early-onset, frequent, and often intracta

An autosomal recessive intellectual developmental disorder characterized by severe global developmental delay with poor motor and intellectual function apparent soon after birth; postnatal progressive microcephaly; and early-onset, frequent, and often intractable seizures that has_material_basis_in homozygous or compound heterozygous mutation in the VARS1 gene on chromosome 6p21.

Signs and symptoms

• Cerebral cortical atrophy
• Hypotonia
• Motor delay
• Intellectual disability
• Premature birth
• Progressive microcephaly
• Microcephaly
• Cerebral atrophy
• Absent speech
• Hypoplasia of the corpus callosum

Also known as: NDMSCA