Multiple Mitochondrial Dysfunctions Syndrome 6
Disease ID: disease_node_16817
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| Dbxref | MIM:617954 |
|---|---|
| Subclassof | DOID_0050737, DOID_0070330 |
| Data Source | DOID |
| Doid Label | multiple mitochondrial dysfunctions syndrome 6 |
| Doid Description | A multiple mitochondrial dysfunctions syndrome that is characterized by hypotonia, inability to walk, poor speech, intellectual disability, and motor abnormalities, such as ataxia, dystonia, and spasticity with onset in early childhood and has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the PMPCB gene on chromosome 7q22. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16817 |
| Doid Id | DOID_0070332 |
| Label | Multiple Mitochondrial Dysfunctions Syndrome 6 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)