| HP:0000006 | Autosomal dominant 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
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| 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:0000825 | Hyperinsulinemic hypoglycemia | |
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| HP:0001249 | Mental retardation | |
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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:0001325 | Hypoglycemic coma | |
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| HP:0001425 | Heterogeneous | |
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| HP:0001993 | Ketoacidosis | |
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| HP:0002173 | Seizures, hypoglycemic | |
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| HP:0003236 | Elevated serum creatine phosphokinase | |
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| HP:0003710 | Muscle cramps with exercise | |
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| HP:0004510 | Islets of Langerhans hyperplasia | |
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| HP:0008967 | Exercise-induced muscle stiffness | |
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| HP:0009020 | Exercise-induced muscle fatigue | "An abnormally increased tendency towards muscle fatigue induced by physical exercise." [HPO:curators] |
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| HP:0011968 | Feeding difficulties | "Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it." [ISCA:eriggs] |
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| HP:0012734 | Ketotic hypoglycemia | "Low blood glucose is accompanied by elevated levels of ketone bodies in the body." [HPO:probinson] |
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