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| Auditory auras
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| Compensatory scoliosis
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| Lateral venous anomaly
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| Fibrous hamartoma
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| Chorangioma
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| Metatarsal osteolysis
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| Familial predisposition
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| Aplasia/Hypoplasia of the musculature of the pelvis
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| Sex-limited autosomal dominant
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| Compensatory chin elevation
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| Delayed closure of the anterior fontanelle
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| Male-limited autosomal dominant
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| Sclerotic scapulae
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| Congenital mesoblastic nephroma
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| Absent tibia
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| Wide intermamillary distance
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| Aplasia/hypoplasia of proximal toe phalanx
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| Symphalangism affecting the middle phalanges of the toes
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| Aplasia/Hypoplasia of the distal phalanx of the 2nd finger
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| Curved proximal toe phalanx
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| Osteolytic defect of the proximal toe phalanx
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| Broad proximal phalanx of toe
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| Bullet-shaped proximal toe phalanx
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| Osteolytic defects of the phalanges of the 2nd finger
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| Patchy sclerosis of proximal toe phalanx
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| Symphalangism affecting the proximal phalanges of the toes
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| Patchy sclerosis of 2nd finger phalanx
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| Ivory epiphysis of the middle phalanx of the 3rd finger
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| Irregular epiphysis of the middle phalanx of the 3rd finger
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| Fragmentation of the epiphysis of the middle phalanx of the 3rd finger
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| Enlarged epiphysis of the middle phalanx of the 3rd finger
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| Cone-shaped epiphysis of the middle phalanx of the 3rd finger
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| Bracket epiphysis of the middle phalanx of the 3rd finger
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| Absent epiphysis of the middle phalanx of the 3rd finger
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| Abnormality of the epiphyses of the 3rd finger
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| Small epiphysis of the middle phalanx of the 3rd finger
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| Pseudoepiphysis of the middle phalanx of the 3rd finger
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| Sclerosis of the middle phalanx of the 2nd finger
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| Ivory epiphysis of the distal phalanx of the 2nd toe
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| Neoplasia of the male external genitalia
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| Neoplasia of the scrotum
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| Spinal deformities
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| Septo-optic dysplasia
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| Glioblastoma
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| Aplasia/Hypoplasia of the eyebrow
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| Microgastria
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| Palmoplantar pustules
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| Pancreatic fistula
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| Anaphylactic shock
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| Ureteropelvic junction obstruction
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| Renal duplication
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| Vesicoureteral reflux
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| Abnormality of the kidney
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| Ureterocele
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| Ureteral stenosis
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| Hydroureter
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| Ureteral duplication
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| Irregular epiphysis of the distal phalanx of the 2nd toe
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| Abnormality of the genital system
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| Abnormality of the urinary system
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| Stroke
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| Intestinal hypoplasia
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| Imperfect vocal cord adduction
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| Hypoplasia of the abdominal wall musculature
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| Cranial nerve compression
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| Total intestinal aganglionosis
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| Abnormality of the epiphyses
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| Generalized hypotonia
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| Intrahepatic biliary atresia
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| Functional intestinal obstruction
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| Abnormal respiratory motile cilium morphology
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| Encephalopathy
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| Enlarged epiphysis of the distal phalanx of the 2nd toe
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| Decreased activity of the pyruvate dehydrogenase (PDH) complex
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| Leydig cell insensitivity to gonadotropin
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| Decreased circulating aldosterone level
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| Thyroid-stimulating hormone excess
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| Abnormality of thyroid physiology
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| Histidinuria
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| Decreased circulating ACTH level
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| Abnormality of the cerebrospinal fluid
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| Increased CSF protein
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| Rheumatoid factor positive
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| Pretragal ectopia
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| Auricular pit
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| Squared superior portion of helix
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| Abnormality of the nasal cartilage
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| Cone-shaped epiphysis of the distal phalanx of the 2nd toe
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| Auricular tag
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| Question mark ear
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| Quelprud Nodule
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| Absent nasal cartilage
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| Splayed fingers
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| Sclerosis of the distal phalanx of the 5th finger
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| Rectal fistula
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| Peritoneal abscess
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| Calcification of cartilage
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| Esophageal web
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| Camptocormia
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| Absent nares
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