Phenotypes associated with the disease ophthalmoplegic neuromuscular disorder with abnormal mitochondria (OMIM:258470):
- Ptosis (HP:0000508): The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective). Evidence: TAS. Frequency: 20/20. (OMIM:258470)
- Ophthalmoplegia (HP:0000602): Paralysis of one or more extraocular muscles that are responsible for eye movements. Evidence: IEA. (OMIM:258470)
- Mitochondrial inheritance (HP:0001427): A mode of inheritance that is observed for traits related to a gene encoded on the mitochondrial genome. Because the mitochondrial genome is essentially always maternally inherited, a mitochondrial condition can only be transmitted by females, although the condition can affect both sexes. The proportion of mutant mitochondria can vary (heteroplasmy). Evidence: TAS. (OMIM:258470)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: TAS. (OMIM:258470)
- Abnormal cranial nerve morphology (HP:0001291): Structural abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem. Evidence: IEA. (OMIM:258470)
- Muscle weakness (HP:0001324): Reduced strength of muscles. Evidence: IEA. (OMIM:258470)
- Abnormal mitochondria in muscle tissue (HP:0008316): An abnormality of the mitochondria in muscle tissue. Evidence: IEA. (OMIM:258470)