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MIRAGE
neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities
Summary
- Synonym
-
- 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.
- Super Class
- amino acid metabolic disorder autosomal recessive disease mitochondrial metabolism disease
External Links
- Disease Ontology
- DOID:0070543
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P34897 | Serine hydroxymethyltransferase, mitochondrial |
