| 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:0000010 | Recurrent urinary tract infections | "Repeated infections of the urinary tract." [HPO:curators] |
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| HP:0000020 | Urinary incontinence | "Loss of the ability to control the urinary bladder leading to involuntary urination." [HPO:sdoelken] |
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| HP:0000510 | Retinitis pigmentosa | "Hereditary degeneration and atrophy of the retina." [HPO:curators] |
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| HP:0000518 | Cataract | "A cataract is an opacity or clouding that develops in the crystalline `lens` (FMA:58241) of the eye or in its `capsule` (FMA:58881)." [HPO:probinson] |
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| HP:0000550 | Abolished electroretinogram (ERG) | |
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| HP:0000572 | Visual loss | |
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| HP:0000575 | Scotoma | "Scotoma refers to an area or island of loss or impairment of visual acuity surrounded by a field of normal or relatively well-preserved vision." [HPO:curators] |
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| HP:0000618 | Blindness | |
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| HP:0000648 | Optic atrophy | |
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| HP:0000662 | Night blindness | |
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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:0001284 | Areflexia | |
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| HP:0001290 | Generalized hypotonia | "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
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| HP:0002066 | Gait ataxia | "Impairment of the ability to coordinate the movements required for normal walking." [HPO:curators] |
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| HP:0002136 | Broad-based gait | "An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia." [HPO:curators] |
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| HP:0002143 | Abnormality of the spinal cord | "An abnormality of the spinal cord (myelon)." [HPO:curators] |
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| HP:0002166 | Decreased vibratory sense in the lower limbs | "A decrease in the ability to perceive vibration in the legs." [HPO:curators] |
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| HP:0002194 | Delayed gross motor development | |
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| HP:0002403 | Positive Romberg sign | |
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| HP:0002460 | Distal muscle weakness | "Reduced strength of the distal musculature." [HPO:curators] |
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| HP:0002571 | Achalasia | |
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| HP:0002579 | Gastrointestinal dysmotility | |
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| HP:0002607 | Bowel incontinence | |
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| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
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| HP:0002754 | Osteomyelitis | |
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| HP:0002808 | Kyphosis | |
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| HP:0003202 | Amyotrophy | "The presence of muscular atrophy (which is also known as amyotrophy)." [HPO:curators] |
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| HP:0003394 | Muscle cramps | |
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| HP:0003448 | Decreased sensory nerve conduction velocities (NCV) | |
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| HP:0003677 | Slow progression | |
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| HP:0007737 | Bony spicule pigmentary retinopathy | |
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| HP:0009473 | Joint contractures involving the joints of the hand | |
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| HP:0010871 | Sensory ataxia | "Incoordination of movement caused by a deficit in the sensory nervous system. Sensory ataxia can be distinguished from cerebellar ataxia by asking the patient to close his or her eyes. Persons with cerebellar ataxia show only a minimal worsening of symptoms, whereas persons with sensory ataxia show a marked worsening of symptoms." [HPO:probinson] |
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| HP:0011463 | Childhood onset | "Onset of disease at the age of between 1 and 5 years." [DDD:hfirth] |
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| HP:0012385 | Camptodactyly | "The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension." [HPO:probinson] |
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| HP:0012532 | Chronic pain | "Persistent pain, usually defined as pain that has laster longer than 3 to 6 months." [HPO:probinson, pmid:1875958] |
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| HP:0012785 | Flexion contracture of finger | "Chronic loss of joint motion in a finger due to structural changes in non-bony tissue." [HPO:probinson] |
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| HP:0030147 | Truncal titubation | "Tremor of the trunk in an anterior-posterior plane at 3-4 Hz." [HPO:probinson] |
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| HP:0030529 | Ring scotoma | |
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| HP:0040078 | Axonal degeneration | |
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| HP:0040132 | Abnormal sensory nerve conduction velocity | |
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