| 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: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:0001081 | Cholelithiasis | |
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| HP:0001324 | Muscle weakness | "Reduced strength of muscles." [HPO:curators] |
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| HP:0001878 | Hemolytic anemia | |
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| HP:0001903 | Anemia | |
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| HP:0001923 | Reticulocytosis | |
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| HP:0001997 | Gout | |
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| HP:0002149 | Hyperuricemia | "An abnormally high level of uric acid in the blood." [HPO:curators] |
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| HP:0002486 | Myotonia | "Myotonia is characterized by an abnormally slow relaxation of the muscles after voluntary contraction or electrical stimulation. During physical examination, myotonia may be elicited by asking the patient to make a tight fist and then quickly open the hand." [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:0003546 | Exercise intolerance | |
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| HP:0003573 | Increased total bilirubin | |
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| HP:0003710 | Muscle cramps with exercise | |
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| HP:0003828 | Variable expressivity | |
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| HP:0008305 | Myoglobinuria, exercise-induced | |
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| HP:0009051 | Increased muscle glycogen content | "An increased amount of glycogen, which functions as a secondary short term energy storage in several organs, in muscle tissue." [HPO:curators] |
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| HP:0030271 | Reduced erythrocyte 2,3-diphosphoglycerate concentration | "2,3-diphosphoglycerate (2,3-DPG) controls the movement of oxygen from red blood cells to tissues. Anemia is usually accompanied by an increased level of 2,3-DPG in order to promote tissue oxygenation. This term refers to an inappropriate low 2,3-DPG concentration in erythrocytes." [HPO:probinson] |
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