| 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] |
Show
|
| HP:0000467 | Neck muscle weakness | |
Show
|
| 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] |
Show
|
| HP:0001254 | Lethargy | |
Show
|
| HP:0001259 | Coma | |
Show
|
| HP:0001262 | Somnolence | |
Show
|
| HP:0001289 | Confusion | "Lack of clarity and coherence of thought, perception, understanding, or action." [HPO:curators] |
Show
|
| HP:0001290 | Generalized hypotonia | "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
Show
|
| HP:0001298 | Encephalopathy | |
Show
|
| HP:0001324 | Muscle weakness | "Reduced strength of muscles." [HPO:curators] |
Show
|
| HP:0001397 | Hepatic steatosis | |
Show
|
| HP:0001508 | Failure to thrive | |
Show
|
| HP:0001635 | Congestive heart failure | "The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction." [HPO:curators] |
Show
|
| HP:0001639 | Hypertrophic cardiomyopathy | |
Show
|
| HP:0001640 | Cardiomegaly | |
Show
|
| HP:0001706 | Endocardial fibroelastosis | |
Show
|
| HP:0001943 | Hypoglycemia | "A lower than normal level of blood glucose." [HPO:curators] |
Show
|
| HP:0001987 | Hyperammonemia | |
Show
|
| HP:0001988 | Recurrent hypoglycemic episodes | |
Show
|
| HP:0002013 | Vomiting | |
Show
|
| HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
Show
|
| HP:0002312 | Clumsiness | |
Show
|
| 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] |
Show
|
| HP:0003198 | Myopathy | |
Show
|
| HP:0003234 | Decreased plasma carnitine | |
Show
|
| HP:0005959 | Impaired gluconeogenesis | |
Show
|
| HP:0006846 | Acute encephalopathy | |
Show
|
| HP:0007334 | Partial seizures with secondary generalization | "`Partial seizures` (HP:0007359) with secondary evolution into a `generalized seizures` (HP:0002197)." [HPO:probinson] |
Show
|
| HP:0030362 | Reduced muscle carnitine level | "A reduction in the level of carnitine in muscle tissue." [HPO:probinson, pmid:8174281, pmid:8472351] |
Show
|
| HP:0045061 | Decreased carnitine level in liver | |
Show
|
