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| Left bundle branch block
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| Right bundle branch block
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| Left anterior fascicular block
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| Bundle branch block
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| Corneal arcus
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| Supracardiac total anomalous pulmonary venous connection
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| Abnormality of the pulmonary veins
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| Stiff interphalangeal joints
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| Aplasia of the abdominal wall musculature
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| Bridged sella turcica
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| Limb-girdle muscle weakness
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| Proximal finger joint hyperextensibility
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| Congenital knee dislocation
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| Restricted large joint movement
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| Flattened metatarsal heads
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| Polyarticular arthropathy
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| Widened posterior fossa
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| Hypermetropia
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| Nocturia
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| Impaired ocular adduction
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| Optic disc pallor
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| External ophthalmoplegia
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| Myopia
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| Retinal degeneration
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| Tapetoretinal degeneration
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| Cone-rod dystrophy
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| Abnormal conjugate eye movement
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| Urinary hesitancy
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| Vertebral fusion
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| Fused cervical vertebrae
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| Supernumerary vertebrae
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| Cervical kyphosis
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| Thoracolumbar scoliosis
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| Intervertebral space narrowing
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| Thoracic kyphosis
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| Thoracic scoliosis
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| Axial muscle weakness
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| Urinary tract neoplasm
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| Neoplasm of fatty tissue
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| Ectopia lentis
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| Hypoglycosylation of alpha-dystroglycan
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| Abnormality of lateral ventricle
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| Flexion contracture of digit
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| Serpentine fibula
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| Incomplete ossification of pubis
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| Hip Subluxation
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| Fused lumbar vertebrae
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| Schmorl's node
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| Colpocephaly
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| Brain abscess
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| Hypoglycemia
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| Limited neck flexion
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| Acidosis
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| Intestinal edema
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| Renal tubular acidosis
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| Ketosis
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| Fever
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| Dehydration
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| Ureteral atresia
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| Hypokalemic alkalosis
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| Alkalosis
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| Broad foot
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| Jejunoileal ulceration
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| Thin anteverted nares
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| Diffuse leiomyomatosis
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| Cutaneous leiomyosarcoma
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| Abnormality of midbrain morphology
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| Molar tooth sign on MRI
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| Paraspinal neurofibromas
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| Spina bifida
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| Leukodystrophy
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| Subependymal cysts
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| Aqueductal stenosis
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| Myokymia
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| Malignant genitourinary tract tumor
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| Leiomyosarcoma
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| Decreased corneal thickness
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| Bilateral single transverse palmar creases
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| Generalized reticulate brown pigmentation
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| Painful subcutaneous lipomas
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| Congenital palmoplantar keratodermia
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| Tracheal atresia
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| Redundant skin in infancy
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| Aplasia/Hypoplastia of the eccrine sweat glands
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| Abnormality of Sharpey fibers
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| Aplasia cutis congenita over posterior parietal area
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| Polyotia
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| Contracture of the metatarsophalangeal joint of the 2nd toe
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| Abnormality of the choroid plexus
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| Contracture of the distal interphalangeal joint of the 4th toe
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| Contractures of the distal interphalangeal joint of the 5th toe
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| Contracture of the distal interphalangeal joint of the 2nd toe
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| Contracture of the distal interphalangeal joint of the 3rd toe
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| Contracture of the proximal interphalangeal joint of the 4th toe
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| Upper limb metaphyseal widening
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| Broad proximal phalanx of the 3rd toe
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| Progressive muscle weakness
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| Contracture of the metatarsophalangeal joint of the 4th toe
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| Contracture of the metatarsophalangeal joint of the 5th toe
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| Abnormality of the septum pellucidum
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