Phenotypes associated with the disease necrotizing encephalomyelopathy, subacute, of Leigh, adult (OMIM:161700):
- Bone pain (HP:0002653): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone. Evidence: IEA. (OMIM:161700)
- Gastric ulcer (HP:0002592): An ulcer, that is, an erosion of an area of the gastric mucous membrane. Evidence: IEA. (OMIM:161700)
- Coarse facial features (HP:0000280): Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues. Evidence: IEA. (OMIM:161700)
- Cutis gyrata of scalp (HP:0010541): The presence of convoluted folds and furrows formed from thickened skin of the scalp, resembling cerebriform pattern. The scalp has convoluted and elevated folds, 1 to 2 cm in thickness. The convolutions generally cannot be flattened by traction. Evidence: IEA. (OMIM:161700)
- Metatarsal periosteal thickening (HP:0008074). Evidence: IEA. (OMIM:161700)
- Metacarpal periosteal thickening (HP:0006051). Evidence: IEA. (OMIM:161700)
- Onychogryphosis (HP:0001805): Onychogryphosis is a disorder of nail plate growth that is clinically characterized by an opaque, yellow-brown thickening of the nail plate with associated gross hyperkeratosis, elongation, and increased curvature. Evidence: IEA. (OMIM:161700)
- Arthralgia (HP:0002829): Joint pain. Evidence: IEA. (OMIM:161700)
- Osteolytic defects of the phalanges of the hand (HP:0009771): Dissolution or degeneration of bone tissue of the phalanges of the hand. Evidence: IEA. (OMIM:161700)
- Proximal phalangeal periosteal thickening (HP:0006175). Evidence: IEA. (OMIM:161700)
- 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: IEA. (OMIM:161700)
- Hyperhidrosis (HP:0000975): Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather. Evidence: IEA. (OMIM:161700)
- Clubbing (HP:0001217): Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails. Evidence: IEA. (OMIM:161700)
- Periosteal thickening of long tubular bones (HP:0006465): Thickening of the periosteum of long bone. Evidence: IEA. (OMIM:161700)
- Abnormality of the cardiovascular system (HP:0001626): Any abnormality of the cardiovascular system. Evidence: IEA. (OMIM:161700)
- Autosomal dominant inheritance (HP:0000006): 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: IEA. (OMIM:161700)
- Gastric hypertrophy (HP:0005207): Hypertrophy of the stomach. Evidence: IEA. (OMIM:161700)
- Arthritis (HP:0001369): Inflammation of a joint. Evidence: IEA. (OMIM:161700)
- Foot acroosteolysis (HP:0001842). Evidence: IEA. (OMIM:161700)