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| Abnormality of the hand
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| Brachydactyly syndrome
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| Decreased retinal pigmentation with dispersion
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| Large hyperpigmented retinal spots
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| Ectropion of lower eyelids
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| Progressive ophthalmoplegia
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| Eversion of lateral third of lower eyelids
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| Retinal striation
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| Diffuse nuclear cataract
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| Lacrimal gland aplasia
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| Sclerotic foci of the humerus
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| Humeral sclerosis
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| Slender humerus
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| Tapered humerus
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| Triangular humerus
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| Undermodeled humerus
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| Wide humerus
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| Abnormality of the humeral heads
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| Flattened humeral heads
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| Abnormality of the deltoid tuberosities
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| Exstrophy
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| Opisthotonus
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| Hypoglycemic seizures
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| Postural instability
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| Gliosis
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| Intracranial hemorrhage
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| Spinal cord compression
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| Postural tremor
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| Premature osteoarthritis
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| Hamstring contractures
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| Hydroxyprolinuria
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| Increased urinary potassium
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| Dislocated radial head
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| Fractures of the long bones
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| Long fibula
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| Acromesomelia
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| Thickened calvaria
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| Abnormality of the frontal sinuses
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| Prenatal maternal abnormality
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| Deformed sella turcica
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| J-shaped sella turcica
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| Abnormality of the calvaria
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| Broad skull
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| Absent paranasal sinuses
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| Absent frontal sinuses
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| Slow decrease in visual acuity
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| Fused lips
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| Increased cellular sensitivity to UV light
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| Increased variability in muscle fiber diameter
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| Type 2 muscle fiber atrophy
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| Muscle fiber splitting
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| Muscle stiffness
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| Cellulitis due to immunodeficiency
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| Predominantly lower limb lymphedema
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| Difficulty climbing stairs
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| Hypernatremia
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| Viral infection-induced rhabdomyolysis
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| Muscle hyperirritability
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| Agenesis of canine
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| Agenesis of the small intestine
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| Tension-type headache
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| CSF pleocytosis
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| Arachnoid hemangiomatosis
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| Splenic rupture
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| Non-caseating epithelioid cell granulomatosis
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| Pretibial blistering
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| Ovarian teratoma
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| Urethral stricture
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| Circulating immune complexes
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| Oligodontia of primary teeth
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| Deep longitudinal plantar crease
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| Short third metatarsal
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| Talipes valgus
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| Short fourth metatarsal
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| Irregular tarsal bones
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| Renal diverticulum
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| Infra-orbital crease
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| Hemimacroglossia
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| Aplasia/Hypoplasia of the middle phalanx of the 2nd finger
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| Thick hair
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| Abnormality of the plantar skin of foot
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| Abnormality of the palm
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| Plantar telangiectasia
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| Abnormality of radial diaphysis
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| Broad radial metaphysis
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| Spurred radial metaphysis
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| Medially sloping radial metaphysis
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| Sloping radial metaphysis
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| Sclerotic radial metaphysis with longitudinal striations
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| Lytic defects of radial metaphysis
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| Irregular ossification of the radial metaphysis
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| Lytic defects of radial diaphysis
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| Spurs of radial diaphysis
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| Vestibular areflexia
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| Abnormality of corneal stroma
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| Microtia, second degree
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| Disproportionate shortening of the tibia
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| Partial duplication of the phalanges of the 3rd finger
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| Complete duplication of the phalanges of the 3rd finger
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| Duplication of the middle phalanx of the 3rd finger
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