| 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:0000365 | Hearing loss | |
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| HP:0000403 | Recurrent otitis media | |
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| HP:0000483 | Astigmatism | |
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| HP:0000512 | Abnormal electroretinogram | "Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography." [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:0000529 | Progressive visual loss | |
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| HP:0000545 | Myopia | |
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| HP:0000548 | Cone-rod dystrophy | |
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| HP:0000551 | Abnormal color vision | |
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| HP:0000563 | Keratoconus | "A cone-shaped deformity of the cornea." [HPO:curators] |
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| HP:0000572 | Visual loss | |
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| HP:0000613 | Photophobia | "Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light." [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:0000662 | Night blindness | |
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| HP:0000689 | Dental malocclusion | "Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns." [HPO:curators] |
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| HP:0000772 | Abnormality of the ribs | |
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| HP:0000887 | Cupped ribs | |
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| HP:0000926 | Platyspondyly | |
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| HP:0001129 | Large central visual field defect | |
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| HP:0001141 | Severe visual impairment | |
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| HP:0001156 | Brachydactyly | |
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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: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:0001387 | Joint stiffness | "Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time." [HPO:curators] |
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| HP:0002084 | Encephalocele | |
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| HP:0002269 | Neuronal migration disorder | |
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| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
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| HP:0002657 | Spondylometaphyseal dysplasia | |
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| HP:0002812 | Coxa vara | |
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| HP:0002980 | Femoral bowing | "Bowing (abnormal curvature) of the femur." [HPO:curators] |
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| HP:0002982 | Tibial bowing | "A developmental defect with posteromedial tibial angulation." [HPO:curators] |
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| HP:0002996 | Limited elbow movement | |
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| HP:0003016 | Metaphyseal widening | "Abnormal widening of the metaphyseal regions of long bones." [HPO:curators] |
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| HP:0003021 | Metaphyseal cupping | "Metaphyseal cupping refers to an inward bulging of the metaphyseal profile giving the metaphysis a cup-like appearance." [HPO:curators] |
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| HP:0003025 | Irregular metaphyses | |
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| HP:0003184 | Decreased hip abduction | |
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| HP:0003300 | Ovoid vertebral bodies | |
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| HP:0003307 | Hyperlordosis | |
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| HP:0003375 | Narrow greater sacrosciatic notches | "A narrowing of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium." [HPO:curators] |
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| HP:0003510 | Short stature, severe | "A severe degree of short stature." [HPO:curators] |
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| HP:0004279 | Hypoplastic hand | |
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| HP:0004374 | Hemiplegia/hemiparesis | "Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength." [HPO:curators] |
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| HP:0004565 | severe platyspondyly | |
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| HP:0006487 | Bowing of the long bones | |
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| HP:0006817 | Cerebellar vermis aplasia/hypoplasia | "Absence or underdevelopment of the cerebellar vermis." [HPO:curators] |
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| HP:0007703 | Abnormal retinal pigmentation | |
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| HP:0007730 | Reduced iris pigmentation | |
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| HP:0007994 | Peripheral visual field loss | |
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| HP:0008002 | Macular pigmentary changes | |
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| HP:0008499 | High-grade hypermetropia | |
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| HP:0008821 | Hypoplastic inferior ilia | |
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| HP:0008897 | Growth retardation, progressive | |
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| HP:0008905 | Rhizomelic short stature | |
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| HP:0009381 | Hypoplastic/small fingers | |
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| HP:0010049 | Hypoplastic/short metacarpal bones | |
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| HP:0012795 | Abnormality of the optic disc | "A morphological abnormality of the optic disc, i.e., of the portion of the optic nerve clinically visible on fundoscopic examination." [HPO:probinson] |
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