| 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:0000639 | Nystagmus | "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators] |
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| HP:0000708 | Behavioural/Psychiatric Abnormality | |
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| HP:0000980 | Pallor | |
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| HP:0001249 | Mental retardation | |
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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: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] |
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| HP:0001254 | Lethargy | |
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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:0001288 | Gait disturbance | "The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease." [HPO:curators] |
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| HP:0001290 | Generalized hypotonia | "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
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| HP:0001332 | Dystonia | "An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk." [HPO:curators] |
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| HP:0001508 | Failure to thrive | |
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| HP:0001889 | Megaloblastic anemia | |
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| HP:0001980 | Megaloblastic bone marrow | |
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| HP:0002039 | Anorexia | |
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| HP:0002120 | Cerebral cortical atrophy | |
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| HP:0002156 | Homocystinuria | |
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| HP:0002160 | Homocystinemia | |
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| HP:0002497 | Spastic ataxia | |
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| HP:0002912 | Methylmalonic acidemia | |
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| HP:0003145 | Decreased adenosylcobalamin (ADOCBL) | |
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| HP:0003210 | Decreased methylmalonyl-CoA mutase activity | |
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| HP:0003223 | Decreased methylcobalamin (MECBL) | |
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| HP:0003524 | Decreased methionine synthase (MTR, 156570) activity | |
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| HP:0003593 | Early onset | |
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| HP:0003658 | Decreased serum methionine | |
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| HP:0005518 | Erythrocyte macrocytosis | |
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| HP:0012120 | Methylmalonic aciduria | "Increased concentration of `methylmalonic acid` (CHEBI:30860) in the urine." [HPO:probinson] |
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| HP:0012378 | Fatigue | "A subjective feeling of tiredness characterized by a lack of energy and motivation." [HPO:probinson] |
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