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| Nephroptosis
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| Perioral eczema
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| Concave nasal ridge
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| Abnormality of skin morphology
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| Abnormality of skin physiology
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| Inflammatory abnormality of the skin
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| Acute esophageal necrosis
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| Bilateral fetal pyelectasis
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| Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis
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| Tetralogy of Fallot with absent pulmonary valve
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| Patchy sclerosis of the proximal phalanx of the 4th toe
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| Aplasia/Hypoplasia of the phalanges of the 5th toe
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| Abnormality of the proximal phalanx of the 4th toe
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| Abnormality of the middle phalanx of the 4th toe
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| Abnormality of the distal phalanx of the 4th toe
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| Osteolytic defects of the phalanges of the 5th toe
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| Curved 5th toe phalanx
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| Bullet-shaped 5th toe phalanx
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| Broad phalanges of the 5th toe
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| Increased urinary copper concentration
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| High nonceruloplasmin-bound serum copper
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| Symphalangism affecting the phalanges of the 5th toe
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| Patchy sclerosis of 5th toe phalanx
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| Congenital microthorax
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| Fibrous cardiac diverticulum
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| Muscular cardiac diverticulum
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| Patchy sclerosis of the proximal phalanx of the 5th toe
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| Carcinoid
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| Verrucous papule
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| Amaurosis fugax
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| Costal cartilage calcification
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| Small pituitary gland
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| Aplasia/Hypoplasia of the tongue
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| Pericarditis
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| Patchy sclerosis of the distal phalanx of the 3rd toe
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| Neoplasm of the gallbladder
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| Prominent floating ribs
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| Lipoatrophy
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| Astereognosia
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| Dysgraphia
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| Finger agnosia
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| Myocardial necrosis
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| Alexia
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| Dyslexia
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| Gait apraxia
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| Echolalia
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| Prosopagnosia
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| Abnormality of globe size
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| Triangular shaped middle phalanges of the hand
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| Abnormality of dentin
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| Smooth tongue
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| Rheumatoid arthritis
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| Flexion contracture
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| Joint dislocation
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| Congenital hip dislocation
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| Limitation of joint mobility
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| Limited elbow extension
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| Degenerative joint disease
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| Abnormality of the tricuspid valve
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| Synovitis
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| Choriocarcinoma
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| Abnormality of the placenta
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| Abnormality of the lymphatic vessels
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| Abnormality of the tonsils
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| Lymphangioma
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| Abnormality of the lymphatic system
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| Hemobilia
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| Visceral angiomatosis
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| Clubbing of toes
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| Large sternal ossification centers
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| Abnormality of natural killer cells
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| Abnormal natural killer cell physiology
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| Triphalangeal thumb
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| Abnormalities of placenta or umbilical cord
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| Single umbilical artery
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| Short umbilical cord
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| Abnormality of prenatal development or birth
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| Abnormality of the carpal bones
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| Ulnar deviation of the hand or of fingers of the hand
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| Renal Fanconi syndrome
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| Hyperchloremic acidosis
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| Chronic metabolic acidosis
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| Gout
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| Aplasia/Hypoplasia of toe
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| Organic aciduria
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| Ketoacidosis
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| Vitamin B1 deficiency
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| Vitamin B12 deficiency
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| Recurrent bronchiolitis
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| Fibular deviation of toes
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| Neonatal hypoglycemia
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| Abnormal facial shape
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| Vitamin B5 deficiency
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| Vitamin B2 deficiency
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| Chondrosarcoma
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| Spastic paraparesis
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| Clumsiness
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| Incoordination
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| Orofacial dyskinesia
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| Abnormality of primary molar morphology
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