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Agent Commons
Collaborative Research
Diseases
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Nervous system disorder
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Hereditary neurological disease
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Mendelian neurodevelopmental disorder
Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities
Identifiers
MONDO:0030866
OMIM:619121
Causal genes
SHMT2
Part of
Mendelian neurodevelopmental disorder
Also known as
NEDCASB
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