| HP:0000007 | Autosomal recessive inheritance | "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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
Show
|
| HP:0000044 | Hypogonadotrophic hypogonadism | "Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH)." [HPO:curators] |
Show
|
| HP:0000407 | Hearing loss, sensorineural | "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators] |
Show
|
| HP:0000508 | Ptosis | "Drooping of the eyelid." [HPO:curators] |
Show
|
| HP:0000544 | External ophthalmoplegia | |
Show
|
| HP:0000590 | External ophthalmoplegia, progressive (PEO) | |
Show
|
| HP:0000726 | Dementia | |
Show
|
| HP:0000815 | Hypergonadotropic hypogonadism | "Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay." [HPO:curators] |
Show
|
| HP:0001155 | Abnormality of the hand | "An abnormality affecting one or both hands." [HPO:curators] |
Show
|
| HP:0001249 | Mental retardation | |
Show
|
| HP:0001284 | Areflexia | |
Show
|
| HP:0001394 | Cirrhosis | |
Show
|
| HP:0001403 | Macrovesicular steatosis | |
Show
|
| HP:0001903 | Anemia | |
Show
|
| HP:0002013 | Vomiting | |
Show
|
| HP:0002014 | Diarrhea | |
Show
|
| HP:0002015 | Dysphagia | "Difficulty in swallowing." [HPO:curators] |
Show
|
| HP:0002018 | Nausea | |
Show
|
| HP:0002019 | Constipation | |
Show
|
| HP:0002020 | Gastroesophageal reflux | |
Show
|
| HP:0002024 | Malabsorption | |
Show
|
| HP:0002027 | Abdominal pain | |
Show
|
| HP:0002254 | Intermittent diarrhea | |
Show
|
| HP:0002352 | Leukoencephalopathy | |
Show
|
| HP:0002460 | Distal muscle weakness | "Reduced strength of the distal musculature." [HPO:curators] |
Show
|
| HP:0002500 | Abnormality of the cerebral white matter | |
Show
|
| HP:0002578 | Gastroparesis | |
Show
|
| HP:0002579 | Gastrointestinal dysmotility | |
Show
|
| HP:0002910 | Elevated transaminases | "Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage." [HPO:curators] |
Show
|
| HP:0002922 | Increased CSF protein | |
Show
|
| HP:0002936 | Distal sensory impairment | |
Show
|
| HP:0003128 | Lactic acidemia | "An abnormal buildup of `lactic acid` (CHEBI:28358) in the body, leading to `acidification` (GO:0045851) of the blood." [HPO:probinson] |
Show
|
| HP:0003199 | Decreased muscle mass | |
Show
|
| HP:0003200 | Ragged-red muscle fibers | "An abnormal appearance of muscle fibers observed on muscle biopsy. Ragged red fibers can be visualized with Gomori trichrome (GT) staining as irregular and intensely red subsarcolemmal zones, whereas the normal myofibrils are green. The margins of affect fibers appear red and ragged." [HPO:curators] |
Show
|
| HP:0003270 | Abdominal distention | "Enlargement or distention of the abdomen, which can be a secondary feature associated with a number of conditions such as bowel obstruction." [HPO:curators] |
Show
|
| HP:0003348 | Hyperalaninemia | |
Show
|
| HP:0003387 | Loss of large myelinated fibers | |
Show
|
| HP:0003388 | Easy fatigability | |
Show
|
| HP:0003401 | Paresthesia | "Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause." [HPO:curators] |
Show
|
| HP:0003431 | Decreased motor nerve conduction velocity (NCV) | |
Show
|
| HP:0003448 | Decreased sensory nerve conduction velocities (NCV) | |
Show
|
| HP:0003477 | Axonal neuropathy | |
Show
|
| HP:0003548 | Electron microscopy shows subsarcolemmal accumulations of abnormally shaped mitochondria | |
Show
|
| HP:0003676 | Progressive disorder | |
Show
|
| HP:0003688 | Muscle biopsy shows decreased activity of cytochrome C oxidase | |
Show
|
| HP:0003689 | Muscle biopsy shows multiple mitochondrial DNA (mtDNA) deletions | |
Show
|
| HP:0003693 | Distal amyotrophy | "Muscular atrophy affecting muscles in the distal portions of the extremities." [HPO:curators] |
Show
|
| HP:0003737 | Mitochondrial myopathy | |
Show
|
| HP:0004326 | Cachexia | |
Show
|
| HP:0004395 | Malnutrition | |
Show
|
| HP:0004396 | Poor appetite | |
Show
|
| HP:0007103 | Hypodensity of cerebral white matter on MRI | |
Show
|
| HP:0007108 | Demyelinating peripheral neuropathy | |
Show
|
| HP:0007141 | Sensorimotor neuropathy | |
Show
|
| HP:0008049 | Abnormality of the extraocular muscles | |
Show
|
| HP:0009027 | Foot dorsiflexor weakness | |
Show
|
| HP:0012103 | Abnormality of the mitochondrion | "An anomaly of the `mitochondrion` (FMA:63835), the membranous cytoplasmic organelle the interior of which is subdivided by cristae. The `mitochondrion` (GO:0005739) is a self replicating organelle that is the site of tissue respiration." [HPO:probinson] |
Show
|
| HP:0012850 | Small intestinal dysmotility | "Abnormal small intestinal contractions, such as spasms and intestinal paralysis related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes." [HPO:probinson] |
Show
|
| HP:0025149 | Atrophic muscularis propria | "Partial or complete wasting (loss) of muscularois propria tissue that was once present. The atrophy may involve a marked vacuolar degeneration of myocytes, loss of muscle fibers and some cases a highly characteristic honeycomb fibrosis." [PMID:18329691] |
Show
|
| HP:0025461 | Abnormal cell morphology | "Any anomaly of cell structure." [] |
Show
|
| HP:0100613 | Death in early adulthood | |
Show
|
