neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities

An mitochondrial metabolism disease characterized by global neurodevelopmental delay, severely impaired intellectual development, poor overall growth, spasticity of the lower limbs resulting in gait difficulties, and progressive hypertrophic cardiomyopathy or

An mitochondrial metabolism disease characterized by global neurodevelopmental delay, severely impaired intellectual development, poor overall growth, spasticity of the lower limbs resulting in gait difficulties, and progressive hypertrophic cardiomyopathy or cardiac developmental anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the SHMT2 gene on chromosome 12q13.3.

Signs and symptoms

• Microcephaly
• Delayed ability to walk
• Hypoplasia of the corpus callosum
• Growth delay
• Perisylvian polymicrogyria
• Hypertrophic cardiomyopathy
• Dysmetria
• Attention deficit hyperactivity disorder
• Severe intellectual disability
• Proximal placement of thumb

Also known as: NEDCASB