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| Atlantoaxial dislocation
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| Atlantoaxial abnormality
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| Irregular proximal femoral metaphyses
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| Low back pain
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| Back pain
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| Abnormality of the proximal phalanx of the 5th finger
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| Abnormality of the epiphyses of the 5th finger
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| Abnormality of the epiphysis of the proximal phalanx of the 5th finger
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| Triangular epiphysis of the proximal phalanx of the 5th finger
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| Cone-shaped epiphysis of the proximal phalanx of the 5th finger
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| Ivory epiphysis of the proximal phalanx of the 5th finger
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| Enlarged epiphysis of the proximal phalanx of the 5th finger
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| Small epiphysis of the proximal phalanx of the 5th finger
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| Cerebellar vermis atrophy
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| Mastoiditis
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| Abnormality of the mastoid
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| Cranial asymmetry
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| Wide anterior fontanel
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| Oxycephaly
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| Turricephaly
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| Prominent occiput
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| Dolichocephaly
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| Agenesis of molar
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| Agenesis of permanent molar
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| Agenesis of first permanent molar tooth
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| Agenesis of second permanent molar
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| Agenesis of permanent maxillary lateral incisor
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| Agenesis of premolar
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| Agenesis of maxillary premolar
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| Agenesis of mandibular premolar
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| Generalized periodontitis
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| Localized periodontitis
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| Macular hole
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| Macular hyperpigmentation
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| Sclerosis of 2nd toe phalanx
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| Sclerosis of 4th finger phalanx
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| Abnormality of methionine metabolism
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| Abnormality of threonine metabolism
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| Abnormality of glutamine metabolism
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| Abnormality of glutamine family amino acid metabolism
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| Abnormality of histidine metabolism
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| Abnormality of histidine family amino acid metabolism
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| Abnormality of proline metabolism
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| Hyperhistidinemia
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| Abnormality of arginine metabolism
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| Abnormality of lysine metabolism
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| Sclerosis of thumb phalanx
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| Bifid uvula
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| Accessory oral frenulum
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| Abnormality of oral frenula
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| Abnormality of parotid gland
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| Lower lip pit
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| Open mouth
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| Tongue nodules
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| Absence of Stensen duct
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| Peripheral axonal degeneration
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| Enuresis nocturna
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| Mechanical ileus
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| Pyoderma
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| Hypertrichosis
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| Abnormality of the third metatarsal bone
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| Molluscoid pseudotumors
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| Cutaneous photosensitivity
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| Xanthomatosis
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| Axillary freckling
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| Facial capillary hemangioma
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| Melanocytic nevus
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| Enuresis diurna
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| Widely patent coronal suture
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| Blepharitis
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| Abnormality of the eyelashes
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| Obtuse angle of mandible
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| Abnormality of globe location
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| polyarticular chondrocalcinosis
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| Mesomelic arm shortening
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| osteomyelitis leading to amputation due to slow healing fractures
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| Penetrating foot ulcers
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| Soft, doughy skin
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| Hemangioma
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| Poikiloderma
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| Generalized morning stiffness
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| Diaphyseal thickening
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| Position
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| Enlarged epiphysis of the proximal phalanx of the 2nd toe
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| Cone-shaped epiphysis of the proximal phalanx of the 2nd toe
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| Irregular epiphysis of the proximal phalanx of the 2nd toe
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| Fragmentation of the epiphysis of the proximal phalanx of the 2nd toe
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| Triangular epiphysis of the middle phalanx of the 2nd toe
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| Stippling of the epiphysis of the middle phalanx of the 2nd toe
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| Bracket epiphysis of the proximal phalanx of the 2nd toe
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| Absent epiphysis of the proximal phalanx of the 2nd toe
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| Pseudoepiphysis of the proximal phalanx of the 2nd toe
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| Ivory epiphysis of the proximal phalanx of the 2nd toe
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| Hypoplastic spleen
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| Urinary retention
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| Absent axillary hair
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| Pancreatic lymphangiectasis
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| Reduced pancreatic beta cells
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| White eyebrow
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| Hyperechogenic pancreas
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