has material basis in autosomal recessive disease neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities MIM:619121 DOID:0070543 MIM:619121 NEDCASB disease_ontology 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. mitochondrial metabolism disease amino acid metabolic disorder autosomal recessive inheritance