| 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:0000961 | Cyanosis | |
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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:0001508 | Failure to thrive | |
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| HP:0001639 | Hypertrophic cardiomyopathy | |
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| HP:0001942 | Metabolic acidosis | |
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| HP:0002093 | Respiratory insufficiency | |
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| HP:0002098 | Respiratory distress | |
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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: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:0003198 | Myopathy | |
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| HP:0009805 | Low-output congestive heart failure | "A form of heart failure characterized by reduced cardiac output. This may be seen in patients with heart failure owing to ischemic heart disease, hypertension, cardiomyopathy, and other causes." [HPO:curators] |
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| HP:0012087 | Abnormal mitochondrial shape | "An anomaly in the surface contour of mitochondria." [HPO:probinson, MP:0011633] |
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| 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] |
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