| 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:0000135 | Hypogonadism | "Reduced function of the gonads (testes in males or ovaries in females)." [HPO:curators] |
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| HP:0000365 | Hearing loss | |
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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:0000486 | Strabismus | "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:curators] |
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| HP:0000508 | Ptosis | "Drooping of the eyelid." [HPO:curators] |
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| HP:0000510 | Retinitis pigmentosa | "Hereditary degeneration and atrophy of the retina." [HPO:curators] |
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| HP:0000518 | Cataract | "A cataract is an opacity or clouding that develops in the crystalline `lens` (FMA:58241) of the eye or in its `capsule` (FMA:58881)." [HPO:probinson] |
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| HP:0000580 | Pigmentary retinopathy | |
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| HP:0000602 | Ophthalmoplegia | |
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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:0000648 | Optic atrophy | |
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| HP:0000712 | Emotional lability | |
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| HP:0000716 | Depression | "A condition characterized by pervasive dysphoric mood, loss of interests, and inability to experience pleasure." [HPO:curators] |
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| HP:0000738 | Hallucinations | |
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| HP:0000970 | Anhidrosis | "Inability to sweat." [HPO:curators] |
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| HP:0000998 | Hypertrichosis | "Hypertrichosis is increased hair growth that is abnormal in quantity or location." [HPO:curators] |
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| HP:0001249 | Mental retardation | |
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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:0001251 | Ataxia | "Ataxia is a nonspecific neurological sign and symptom consisting of gross lack of coordination of muscle movements. Ataxia is caused by dysfunction of one or more parts of the nervous system including the cerebellum, the sensory nervous system, the vestibular system, or the cerebral cortex." [HPO:curators] |
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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:0001257 | Spasticity | "A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes." [HPO:curators] |
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| HP:0001260 | Dysarthria | "Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed." [HPO:curators] |
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| HP:0001263 | Developmental retardation | "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators] |
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| HP:0001272 | Cerebellar atrophy | |
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| HP:0001290 | Generalized hypotonia | "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
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| HP:0001319 | Neonatal hypotonia | "Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period." [HPO:curators] |
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| HP:0001324 | Muscle weakness | "Reduced strength of muscles." [HPO:curators] |
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| HP:0001332 | Dystonia | "An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk." [HPO:curators] |
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| HP:0001347 | Hyperreflexia | "The presence of overactive or overresponsive reflexes." [HPO:curators] |
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| HP:0001394 | Cirrhosis | |
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| HP:0001396 | Cholestasis | |
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| HP:0001397 | Hepatic steatosis | |
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| HP:0001404 | Hepatocellular necrosis | |
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| HP:0001410 | Decreased liver function | |
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| HP:0001414 | Microvesicular steatosis | |
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| HP:0001425 | Heterogeneous | |
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| HP:0001427 | Mitochondrial inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on the mitochondrial genome. Because the mitochondrial genome is almost 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)." [HPO:curators] |
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| HP:0001508 | Failure to thrive | |
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| HP:0001511 | Intrauterine growth retardation | |
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| HP:0001596 | Alopecia | "Loss of hair from the head or body." [HPO:curators] |
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| HP:0001639 | Hypertrophic cardiomyopathy | |
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| HP:0001942 | Metabolic acidosis | |
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| HP:0001943 | Hypoglycemia | "A lower than normal level of blood glucose." [HPO:curators] |
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| HP:0001970 | Tubulointerstitial nephritis | |
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| HP:0001994 | Renal Fanconi syndrome | |
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| HP:0002059 | Cerebral atrophy | |
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| HP:0002093 | Respiratory insufficiency | |
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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:0002171 | Gliosis | |
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| HP:0002208 | Coarse hair | |
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| HP:0002299 | Fine, brittle hair | |
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| HP:0002353 | EEG abnormalities | "Abnormality observed by electroencephalogram (EEG), which is used to record of the brain s spontaneous electrical activity from multiple electrodes placed on the scalp." [HPO:curators] |
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| HP:0002490 | Increased CSF lactate | "Increased concentration of lactate in the cerebrospinal fluid." [HPO:curators] |
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| HP:0002793 | Abnormal respiratory patterns | |
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| HP:0002878 | Early respiratory failure | |
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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: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:0003201 | Rhabdomyolysis | |
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| HP:0003256 | Abnormalities of the clotting factors | |
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| HP:0003281 | Increased serum ferritin | |
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| HP:0003329 | Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes | |
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| HP:0003355 | Abnormal urinary amino-acid findings | |
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| HP:0003452 | Increased serum iron | |
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| HP:0003542 | Increased serum pyruvate | "An abnormal increase in the concentration of pyruvate in the blood. Pyruvate is involved in energy metabolism, forming part of glycolysis and the citric acid cycle." [HPO:curators] |
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| HP:0003546 | Exercise intolerance | |
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| HP:0003593 | Early onset | |
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| HP:0003676 | Progressive disorder | |
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| HP:0003777 | Pili torti | "Pili (from Latin pilus, hair) torti (from Latin tortus, twisted) refers to short and brittle hairs that appear flattened and twisted when viewed through a microscope." [HPO:curators] |
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| HP:0003812 | Phenotypic variability | |
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| HP:0003828 | Variable expressivity | |
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| HP:0004298 | Abnormality of the abdominal wall | "The presence of any abnormality affecting the abdominal wall." [HPO:curators] |
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| HP:0004925 | lactic acidosis, chronic | |
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| HP:0006558 | Decreased complex III activity in liver tissue | |
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| HP:0006789 | Mitochondrial encephalopathy | |
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| HP:0007305 | Cns demyelination | |
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| HP:0008872 | Feeding problems in infancy | |
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| HP:0011359 | Dry hair | "Hair that lacks the lustre (shine or gleam) of normal hair." [DDD:cmoss] |
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| HP:0012464 | Decreased transferrin saturation | "A below normal level of saturation of serum transferrin with iron." [HPO:probinson] |
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| HP:0012465 | Elevated hepatic iron concentration | "An increased level of iron in liver tissues." [HPO:probinson, pmid:10922422, pmid:14668426] |
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| HP:0030151 | Cholangitis | "Inflammation of the biliary ductal system, affecting the intrahepatic or extrahepatic portions, or both." [HPO:probinson] |
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| HP:0100613 | Death in early adulthood | |
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