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:0000276 | Long face | |
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HP:0000494 | Downward slanting palpebral fissures | |
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HP:0000508 | Ptosis | "Drooping of the eyelid." [HPO:curators] |
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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: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:0001394 | Cirrhosis | |
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HP:0001399 | Hepatic failure | |
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HP:0001433 | Hepatosplenomegaly | |
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HP:0001744 | Splenomegaly | "An abnormal enlargement of the spleen." [HPO:curators] |
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HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
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HP:0002611 | Cholestatic liver disease | |
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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:0003202 | Amyotrophy | "The presence of muscular atrophy (which is also known as amyotrophy)." [HPO:curators] |
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HP:0003236 | Elevated serum creatine phosphokinase | |
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HP:0003593 | Early onset | |
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HP:0006579 | Prolonged neonatal jaundice | |
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HP:0010639 | Elevated alkaline phosphatase of bone origin | "An abnormally increased level of bone isoforms of `alkaline phosphatase, tissue-nonspecific isozyme` (PRO:000003968) in the blood." [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:0012345 | Abnormal glycosylation | "An anomaly of a `glycosylation` (GO:0070085) process, i.e., a process involved in the covalent attachment of a glycosyl residue to a substrate molecule." [HPO:probinson] |
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HP:0025321 | Copper accumulation in liver | "An anomalous build up of copper (Cu) in the liver." [] |
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