|
General Information
|
| Term |
neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities |
ID (Ontology) |
DOID:0070543 (Human Disease) |
| 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. |
| Also Known As |
"NEDCASB" |
| Comment |
|
|
Links to External Ontologies
|
|
DO.org
|
|
Annotations
|
|
Records annotated with this term OR any of its CHILD TERMS
|
|
|
|
Records annotated with this exact term (annotations to child terms are NOT included)
|
|
No relevant records available
|
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
|
| Full annotation statements | Relevant FlyBase reports |
|---|
| Genes |
|---|
neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities | 1 | for disease ribbon | neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities | 1 | model of | neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities | 1 |
|
Relationships