Disease

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.

Synonyms

NEDCASB

Cross References

MIM:619121

Parent Terms

Child Terms

None

Sources of Associations

Associated Genes

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Associated Alleles

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Associated Models

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