| 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:0000121 | Nephrocalcinosis | |
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| HP:0000407 | Hearing loss, sensorineural | "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators] |
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| HP:0000510 | Retinitis pigmentosa | "Hereditary degeneration and atrophy of the retina." [HPO:curators] |
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| HP:0000543 | Pale optic disks | |
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| HP:0000545 | Myopia | |
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| HP:0000662 | Night blindness | |
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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:0001251 | Ataxia | "Ataxia is a nonspecific neurological sign and symptom consisting of gross lack of coordination of muscle movements. Ataxia is caused by dysfunction of one or more parts of the nervous system including the cerebellum, the sensory nervous system, the vestibular system, or the cerebral cortex." [HPO:curators] |
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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:0001290 | Generalized hypotonia | "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
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| HP:0001510 | Growth retardation | |
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| HP:0001638 | Cardiomyopathy | |
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| HP:0001903 | Anemia | |
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| HP:0001924 | Sideroblastic anemia | |
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| HP:0002059 | Cerebral atrophy | |
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| HP:0002299 | Fine, brittle hair | |
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| 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] |
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| HP:0003355 | Abnormal urinary amino-acid findings | |
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| HP:0003828 | Variable expressivity | |
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| HP:0004313 | Reduced immunoglobulin levels | |
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| HP:0004445 | Elliptocytosis | |
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| HP:0004840 | hypochromic, microcytic anemia | |
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| HP:0007722 | Loss of retinal pigment epithelium | |
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| HP:0011273 | Anisocytosis | "Abnormally increased variability in the size of erythrocytes." [HPO:probinson] |
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| HP:0025066 | Decreased mean corpuscular volume | "A reduction from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells (usually defined as an MCV below 80 femtoliters)." [] |
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| HP:0030529 | Ring scotoma | |
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| HP:0030609 | Photoreceptor layer loss on macular OCT | "Loss of the outer nuclear layer (photoreceptor layer) as assessed by ocular coherence tomography." [HPO:probinson] |
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| HP:0040303 | Decreased serum iron | |
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| HP:0100014 | Epiretinal membrane | "An epiretinal membrane is a thin sheet of fibrous tissue that can develop on the surface of the macular area of the retina and cause a disturbance in vision. An epiretinal membrane area can develop on the thin macular area of the retin. An epiretinal membrane is also sometimes called a macular pucker, premacular fibrosis, surface wrinkling retinopathy or cellophane maculopathy." [HPO:sdoelken] |
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