mitochondrial neurodevelopmental disorder with abnormal movements and lactic acidosis, with or without seizures

An autosomal recessive intellectual developmental disorder characterized by delayed psychomotor development, intellectual disability, and abnormal motor function, including hypotonia, dystonia, ataxia, and spasticity that has_material_basis_in homozygous or co

An autosomal recessive intellectual developmental disorder characterized by delayed psychomotor development, intellectual disability, and abnormal motor function, including hypotonia, dystonia, ataxia, and spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the WARS2 gene on chromosome 1p12.

Signs and symptoms

• Long philtrum
• Delayed CNS myelination
• Dysmetria
• Ataxia
• Severe temper tantrums
• Nystagmus
• Aggressive behavior
• Hypoglycemia
• Ventriculomegaly
• Muscle weakness

Also known as: NEMMLAS