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| Acute sinusitis
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| Macrocephaly
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| Amelogenesis imperfecta
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| Dense calvaria
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| Dentinogenesis imperfecta
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| Microcephaly
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| Progressive microcephaly
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| EEG with generalized slow activity
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| Salt craving
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| Burkitt lymphoma
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| EEG with persistent abnormal rhythmic activity
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| Abnormal testosterone level
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| Abnormal CSF lactate level
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| EEG with spike-wave complexes (<2.5 Hz)
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| Low serum calcitriol (1,25-dihydroxycholecalciferol)
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| Congenital megaureter
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| Widened proximal tibial metaphyses
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| Basilar impression
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| Small flat posterior fossa
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| Neonatal epiphyseal stippling
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| Glabellar hemangioma
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| Atrophic scars
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| Atypical nevi in non-sun exposed areas
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| Cigarette-paper scars
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| Thickened skin
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| Angiokeratoma corporis diffusum
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| Mottled pigmentation
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| Multifocal epileptiform discharges
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| Medial widening of clavicles
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| Irregular ossification at anterior rib ends
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| Valgus hand deformity
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| Scapulohumeral synostosis
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| Colonic diverticulosis
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| Abnormality of the large intestine
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| Aganglionic megacolon
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| Small bowel diverticula
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| Chronic rhinitis
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| Intermittent diarrhea
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| Dysphonia
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| Hoarse voice (caused by tumor impingement)
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| Weak cry
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| Nasal speech
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| Hoarse cry
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| Macronodular cirrhosis
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| Hepatic vascular malformations
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| Pseudoepiphysis of the middle phalanx of the 2nd toe
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| Small epiphysis of the middle phalanx of the 2nd toe
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| Enlarged epiphysis of the middle phalanx of the 2nd toe
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| Fragmentation of the epiphysis of the middle phalanx of the 2nd toe
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| Irregular epiphysis of the middle phalanx of the 2nd toe
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| Ivory epiphysis of the middle phalanx of the 2nd toe
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| Triangular epiphysis of the distal phalanx of the 2nd toe
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| Absent epiphysis of the middle phalanx of the 2nd toe
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| Bracket epiphysis of the middle phalanx of the 2nd toe
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| Cone-shaped epiphysis of the middle phalanx of the 2nd toe
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| Distal widening of metacarpals
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| Y-shaped metacarpals
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| Long second metacarpal
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| Short pointed phalanges
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| Allergy
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| Lentigo maligna melanoma
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| Seasonal allergy
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| Neoplasm of the tongue
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| Neoplasm of the oral cavity
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| Hiatus hernia
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| Inflammation of the large intestine
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| Abnormality of the rectum
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| Rectal prolapse
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| Esophageal atresia
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| Poor suck
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| Abnormality of the esophagus
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| Protein avoidance
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| Anorexia
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| Impaired lymphocyte transformation with phytohemagglutinin
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| Fibroblast metachromasia
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| Antiphospholipid antibody positivity
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| Positive ferric chloride test
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| Glutathione synthetase deficiency
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| Trimethylaminuria
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| Junctional split
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| Abnormal dermatological laboratory findings
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| Agitation
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| Low cholesterol esterification rates
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| Hyperalaninemia
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| Emotional lability
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| Increased intraabdominal fat
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| Hypoplastic aortic arch
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| Exercise-induced leg cramps
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| Abnormal rib ossification
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| Proximal muscle weakness in upper limbs
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| Ureteral agenesis
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| Recurrent cerebral hemorrhage
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| Peripheral pulmonary artery stenosis
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| Medial calcification of large arteries
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| Pulmonary arterial medial hypertrophy
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| Depression
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| Thoracic aorta calcification
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| Calcification of the aorta
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| Absent pulmonary artery
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| Pulmonary artery sling
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