neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities

Term ID

DOID:0070543

Synonyms

• NEDCASB

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/

References

• MIM:619121

Ontology

Human Disease   ( DOID:0070543 )