Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2
Disease ID: disease_node_20321
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| Dbxref | MIM:617086 |
|---|---|
| Subclassof | DOID_225, DOID_0050737 |
| Data Source | DOID |
| Doid Label | encephalopathy due to defective mitochondrial and peroxisomal fission 2 |
| Doid Description | A syndrome characterized by delayed psychomotor development, severe hypotonia with inability to walk, microcephaly, and abnormal signals in the basal ganglia that has_material_basis_in homozygous or compound heterozygous mutation in the MFF gene on chromosome 2q36. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20321 |
| Doid Id | DOID_0060994 |
| Label | Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease)