| 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:0000218 | High palate | "Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective)." [pmid:19125428] |
Show
|
| HP:0000252 | Microcephaly | "Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than the age- and gender-dependent norm." [HPO:curators] |
Show
|
| HP:0000343 | Long philtrum | |
Show
|
| HP:0000347 | Mandibular hypoplasia | "Underdevelopment of the mandible." [HPO:curators] |
Show
|
| HP:0000501 | Glaucoma | "Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure." [HPO:curators] |
Show
|
| HP:0000823 | Delayed puberty | |
Show
|
| HP:0000980 | Pallor | |
Show
|
| HP:0001249 | Mental retardation | |
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:0001508 | Failure to thrive | |
Show
|
| HP:0001903 | Anemia | |
Show
|
| HP:0001924 | Sideroblastic anemia | |
Show
|
| HP:0001931 | Hypochromic anemia | |
Show
|
| HP:0001935 | Microcytic anemia | |
Show
|
| 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] |
Show
|
| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
Show
|
| HP:0002808 | Kyphosis | |
Show
|
| HP:0003128 | Lactic acidemia | "An abnormal buildup of `lactic acid` (CHEBI:28358) in the body, leading to `acidification` (GO:0045851) of the blood." [HPO:probinson] |
Show
|
| HP:0003196 | Nasal hypoplasia | "Underdevelopment of the `nose` (FMA:46472)." [HPO:probinson] |
Show
|
| HP:0003198 | Myopathy | |
Show
|
| HP:0003281 | Increased serum ferritin | |
Show
|
| HP:0003323 | Muscle weakness, progressive | |
Show
|
| HP:0003457 | Abnormal EMG findings | "Abnormal results of investigations using electromyography (EMG)." [HPO:curators] |
Show
|
| HP:0003546 | Exercise intolerance | |
Show
|
| HP:0003688 | Muscle biopsy shows decreased activity of cytochrome C oxidase | |
Show
|
| HP:0003737 | Mitochondrial myopathy | |
Show
|
| HP:0009055 | Generalized limb muscle atrophy | "Generalized atrophy affecting muscles of the limbs." [HPO:curators] |
Show
|
| HP:0009743 | Distichiasis | "Distichiasis refers to ouble rows of eyelashes." [HPO:curators] |
Show
|
| HP:0012132 | Erythroid hyperplasia | "Increased count of erythroid precursor cells, that is, `erythroid lineage cells` (CL:0000764) in the bone marrow." [DDD:akelly] |
Show
|
