neurodevelopmental disorder with microcephaly, ataxia, and seizures

An autosomal recessive intellectual developmental disorder characterized by global developmental delay and early-onset seizures that has_material_basis_in homozygous or compound heterozygous mutation in the SARS1 gene on chromosome 1p13.

Signs and symptoms

• Bilateral tonic-clonic seizure
• Microcephaly
• Moderate intellectual disability
• Aggressive behavior
• Global developmental delay
• Ataxia
• Muscle weakness
• Slender build
• Pes planus

Also known as: NEDMAS