| 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: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:0001290 | Generalized hypotonia | "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
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| HP:0001397 | Hepatic steatosis | |
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| HP:0001410 | Decreased liver function | |
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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:0003124 | Hypercholesterolemia | |
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| HP:0003141 | Increased beta-lipoproteins | "An increase in the blood concentration of beta lipoprotein, which is a low-density lipoprotein involved in the blood transport of cholesterol." [HPO:curators] |
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| HP:0003155 | Elevated alkaline phosphatase | "Abnormally increased serum levels of `alkaline phosphatase activity` (GO:0004035)." [HPO:probinson] |
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| HP:0010837 | Decreased serum ceruloplasmin | "A kind of `Abnormality of copper homeostasis` (HP:0010836) related to a `decreased concentration` (PATO:0001163) of `ceruloplasmin` (PR:000005794) in the `blood` (FMA:9670)." [HPO:probinson] |
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| HP:0012347 | Abnormal protein N-linked glycosylation | "An anomaly of `protein N-linked glycosylation` (GO:0006487), i.e., an abnormality of the protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via a nitrogen atom in an amino acid residue in a protein." [HPO:probinson, pmid:22516080] |
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| HP:0012358 | Abnormal protein O-linked glycosylation | "An anomaly of `protein O-linked glycosylation` (GO:0006493), i.e., of the process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the hydroxyl group of a serine or threonine residue." [HPO:probinson] |
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