| 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:0000737 | Irritability | |
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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:0001254 | Lethargy | |
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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:0001508 | Failure to thrive | |
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| HP:0001946 | Ketosis | |
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| HP:0001998 | Neonatal hypoglycemia | |
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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: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:0002919 | Ketonuria | |
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| HP:0003076 | Glycosuria | "The excretion of abnormal amounts of glucose in the urine, generally resulting in osmotic diuresis." [HPO:curators] |
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| HP:0003077 | Hyperlipidemia | |
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| HP:0003162 | Fasting hypoglycemia | |
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| HP:0004322 | Decreased body height | "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators] |
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| HP:0011024 | Abnormality of the gastrointestinal tract | "An abnormality of the `gastrointestinal tract` (FMA:71132)." [HPO:probinson] |
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| HP:0011998 | Postprandial hyperglycemia | "An `increased concentration` (PATO:0001162) of `glucose` (CHEBI:17234) in the `blood` (FMA:9670) following a meal." [HPO:probinson] |
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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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