Details of Disease

General Information of Disease (ID: DIS75JVJ)

Disease Name Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities
Synonyms NEDCASB
Disease Hierarchy
DISYOKTG: Mendelian neurodevelopmental disorder
DIS75JVJ: Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities
Disease Identifiers
MONDO ID
MONDO_0030866
UMLS CUI
C5436848
OMIM ID
619121
MedGen ID
1750805

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SHMT2 OT5NCAZN Strong Autosomal recessive [1]
------------------------------------------------------------------------------------

References

1 Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome. Acta Neuropathol. 2020 Dec;140(6):971-975. doi: 10.1007/s00401-020-02223-w. Epub 2020 Oct 5.