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:0000590 | External ophthalmoplegia, progressive (PEO) | |
Show
|
HP:0000709 | Psychosis | "A condition characterized by changes of personality and thought patterns often accompanied by hallucinations and delusional beliefs." [HPO:curators] |
Show
|
HP:0000750 | Impaired language development | |
Show
|
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] |
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: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] |
Show
|
HP:0001290 | Generalized hypotonia | "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
Show
|
HP:0001371 | Contractures | |
Show
|
HP:0001508 | Failure to thrive | |
Show
|
HP:0001638 | Cardiomyopathy | |
Show
|
HP:0002500 | Abnormality of the cerebral white matter | |
Show
|
HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
Show
|
HP:0003198 | Myopathy | |
Show
|
HP:0003219 | Ethylmalonic aciduria | |
Show
|
HP:0003623 | Onset in neonatal period | |
Show
|
HP:0004911 | metabolic acidosis, episodic | |
Show
|
HP:0008872 | Feeding problems in infancy | |
Show
|
HP:0010628 | Facial muscle weakness | "A weakness of any or all of the muscles of the face of any etiology." [HPO:curators] |
Show
|