WormBase Tree Display for DO_term: DOID:0070462
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| DOID:0070462 | Name | mitochondrial complex V (ATP synthase) deficiency nuclear type 4B | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A mitochondrial complex V (ATP synthase) deficiency nuclear type 4 characterized by onset at birth of horizontal and vertical nystagmus, abnormal primitive reflexes, and tonus dysregulation, followed by fatal encephalopathy that has_material_basis_in autosomal recessive inheritance. | ||||
| Synonym | Exact | MC5DN4B | |||
| Parent | Is_a | DOID:0050737 | |||
| DOID:0060333 | |||||
| DB_info | Database | OMIM | disease | 615228 | |
| Attribute_of | Gene_by_orthology | WBGene00010419 |
