| 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:0000083 | Renal failure | |
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| HP:0000093 | Proteinuria | |
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| HP:0000112 | Nephropathy | "A nonspecific term referring to disease or damage of the kidneys." [HPO:curators] |
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| HP:0000238 | Hydrocephalus | |
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| 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] |
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| HP:0000276 | Long face | |
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| HP:0000319 | Flat philtrum | |
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| HP:0000348 | High forehead | "An abnormally increased height of the forehead." [HPO:curators] |
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| HP:0000369 | Low-set ears | "Low-set ears are defined to be set below an arbitrary line drawn between the lateral canthus of the eye and the occipital protruberance." [HPO:curators] |
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| HP:0000400 | Large ears | |
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| HP:0000488 | Retinopathy | |
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| HP:0000505 | Impaired vision | |
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| HP:0000580 | Pigmentary retinopathy | |
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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:0000726 | Dementia | |
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| HP:0000790 | Hematuria | "The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine)." [HPO:curators] |
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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:0001289 | Confusion | "Lack of clarity and coherence of thought, perception, understanding, or action." [HPO:curators] |
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| HP:0001290 | Generalized hypotonia | "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
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| HP:0001337 | Tremor | "An unintentional, oscillating to-and-fro muscle movement." [HPO:curators] |
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| HP:0001508 | Failure to thrive | |
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| HP:0001873 | Thrombocytopenia | |
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| HP:0001875 | Neutropenia | |
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| HP:0001889 | Megaloblastic anemia | |
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| HP:0001907 | Thromboembolism | |
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| HP:0001942 | Metabolic acidosis | |
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| HP:0001980 | Megaloblastic bone marrow | |
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| HP:0002039 | Anorexia | |
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| HP:0002071 | Extrapyramidal signs | |
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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:0002912 | Methylmalonic acidemia | |
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| HP:0003145 | Decreased adenosylcobalamin (ADOCBL) | |
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| HP:0003153 | Cystathioninuria | |
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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:0003286 | Cystathioninemia | |
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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:0005575 | Hemolytic-uremic syndrome | |
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| HP:0007663 | Decreased central vision | |
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| HP:0008872 | Feeding problems in infancy | |
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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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