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Metadata
ID	DOID:0070543
Name	neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities
Definition	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. https://pubmed.ncbi.nlm.nih.gov/33015733/
Xrefs	MIM:619121
SKOS	exactMatch MIM:619121
Synonyms	NEDCASB [EXACT]
Parent Relationships	is_a mitochondrial metabolism disease is_a amino acid metabolic disorder is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance