| 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] |
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| HP:0000252 | Microcephaly | "Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than the age- and gender-dependent norm." [HPO:curators] |
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| HP:0000407 | Hearing loss, sensorineural | "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators] |
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| HP:0000508 | Ptosis | "Drooping of the eyelid." [HPO:curators] |
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| HP:0000549 | Disconjugate eye movements | |
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| HP:0000590 | External ophthalmoplegia, progressive (PEO) | |
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| HP:0000639 | Nystagmus | "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators] |
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| HP:0000952 | Jaundice | "Yellow pigmentation of the skin or sclera due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream." [HPO:curators] |
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| HP:0001250 | Seizures | "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson] |
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| HP:0001252 | Muscular hypotonia | "Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching." [HPO:curators] |
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| HP:0001265 | Hyporeflexia | |
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| HP:0001271 | Polyneuropathy | "A generalized disorder of peripheral nerves." [HPO:curators] |
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| HP:0001290 | Generalized hypotonia | "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
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| HP:0001298 | Encephalopathy | |
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| HP:0001347 | Hyperreflexia | "The presence of overactive or overresponsive reflexes." [HPO:curators] |
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| HP:0001397 | Hepatic steatosis | |
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| HP:0001399 | Hepatic failure | |
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| HP:0001404 | Hepatocellular necrosis | |
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| HP:0001405 | Periportal fibrosis | |
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| HP:0001409 | Portal hypertension | |
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| HP:0001413 | Micronodular cirrhosis | |
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| HP:0001508 | Failure to thrive | |
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| HP:0001510 | Growth retardation | |
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| HP:0001541 | Ascites | |
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| HP:0001618 | Dysphonia | |
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| HP:0001744 | Splenomegaly | "An abnormal enlargement of the spleen." [HPO:curators] |
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| HP:0001873 | Thrombocytopenia | |
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| HP:0001943 | Hypoglycemia | "A lower than normal level of blood glucose." [HPO:curators] |
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| HP:0002013 | Vomiting | |
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| HP:0002015 | Dysphagia | "Difficulty in swallowing." [HPO:curators] |
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| HP:0002045 | Hypothermia | |
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| HP:0002059 | Cerebral atrophy | |
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| HP:0002120 | Cerebral cortical atrophy | |
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| HP:0002151 | Increased serum lactate | "Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism." [HPO:curators] |
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| HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
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| HP:0002460 | Distal muscle weakness | "Reduced strength of the distal musculature." [HPO:curators] |
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| HP:0002904 | Hyperbilirubinemia | |
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| HP:0002909 | Generalized aminoaciduria | |
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| 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] |
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| HP:0003073 | Hypoalbuminemia | "Reduction in the concentration of albumin in the blood." [HPO:curators] |
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| 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] |
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| 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] |
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| HP:0003202 | Amyotrophy | "The presence of muscular atrophy (which is also known as amyotrophy)." [HPO:curators] |
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| HP:0003236 | Elevated serum creatine phosphokinase | |
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| HP:0003477 | Axonal neuropathy | |
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| HP:0003581 | Onset in adulthood | |
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| HP:0003701 | Proximal muscle weakness | "A lack of strength of the proximal muscles." [HPO:curators] |
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| HP:0003737 | Mitochondrial myopathy | |
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| HP:0006581 | Liver tissue shows 80 to 99% depletion of mitochondrial DNA | |
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| HP:0008872 | Feeding problems in infancy | |
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| HP:0008972 | Decreased activities of mitochondrial-encoded respiratory chain complexes | |
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| HP:0100543 | Cognitive impairment | "Abnormality in the process of thought including the ability to process information." [HPO:sdoelken] |
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