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neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (DOID:0070543)
Alliance: disease page
Synonyms: NEDCASB
Alt IDs: OMIM:619121
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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06/12/2024
MGI 6.13 		The Jackson Laboratory