| 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:0000028 | Cryptorchidism | "Absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis." [HPO:curators] |
Show
|
| HP:0000047 | Hypospadias | "Displacement of the urethral opening on the ventral (inferior) surface of the penis." [HPO:curators] |
Show
|
| HP:0000648 | Optic atrophy | |
Show
|
| HP:0001249 | Mental retardation | |
Show
|
| HP:0001324 | Muscle weakness | "Reduced strength of muscles." [HPO:curators] |
Show
|
| HP:0001414 | Microvesicular steatosis | |
Show
|
| HP:0001511 | Intrauterine growth retardation | |
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:0001644 | Dilated cardiomyopathy | |
Show
|
| HP:0001645 | Sudden cardiac death | |
Show
|
| HP:0001657 | Prolonged QT interval on EKG | |
Show
|
| HP:0002470 | Cerebellar ataxia, nonprogressive | |
Show
|
| HP:0003150 | Glutaric aciduria | |
Show
|
| HP:0003344 | 3-Methylglutaric aciduria | |
Show
|
| HP:0004856 | normochromic microcytic anemia | |
Show
|
| HP:0008734 | Decreased testicular size | |
Show
|
| HP:0008897 | Growth retardation, progressive | |
Show
|
| HP:0012817 | Noncompaction cardiomyopathy | "A type of cardiomyopathy characterized anatomically by deep trabeculations in the ventricular wall, which define recesses communicating with the main ventricular chamber." [HPO:probinson, pmid:15210614, pmid:24282766] |
Show
|
