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| Contracture of the proximal interphalangeal joint of the 5th finger
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| Maternal diabetes
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| Pseudoepiphysis of the distal phalanx of the 2nd toe
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| Abnormality of the middle phalanx of the 5th toe
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| Hodgkin lymphoma
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| Hyperemesis gravidarum
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| Increased erythrocyte protoporphyrin concentration
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| Scintillating scotoma
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| Constrictive median neuropathy
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| Hyperalphalipoproteinemia
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| Hyperplastic colonic polyposis
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| Oropharyngeal squamous cell carcinoma
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| Entrapment neuropathy
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| Ridged cranial sutures
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| Abnormality of the anterior segment of the eye
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| Abnormality of the posterior segment of the eye
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| Fragmentation of the epiphysis of the distal phalanx of the 2nd toe
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| Elevated leukocyte alkaline phosphatase
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| Vaginal fistula
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| Bladder fistula
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| Short stature
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| Abnormality of body weight
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| Increased body weight
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| Decreased body weight
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| Cachexia
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| Abnormality of the vitreous humor
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| Bracket epiphysis of the distal phalanx of the 2nd toe
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| Osteolytic defects of the proximal phalanx of the 2nd toe
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| Absent epiphysis of the distal phalanx of the 2nd toe
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| Black pigment gallstones
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| Brown pigment gallstones
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| Cholesterol gallstones
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| Pigment gallstones
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| Ectopic ossification
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| Ectopic ossification in muscle tissue
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| Abnormality of fontanelles
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| Abnormality of cranial sutures
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| Anterior plagiocephaly
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| Posterior plagiocephaly
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| Multiple suture craniosynostosis
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| Pansynostosis
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| Right unilambdoid synostosis
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| Cleft of chin
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| Unilambdoid synostosis
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| Left unilambdoid synostosis
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| Broad hallux phalanx
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| Aplasia/Hypoplasia of the phalanges of the hallux
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| Abnormality of the phalanges of the hallux
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| Abnormality of the epiphyses of the hallux
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| Broad hallux
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| Abnormality of the first metatarsal
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| Abnormality of the distal phalanx of the hallux
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| Abnormality of the proximal phalanx of the hallux
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| Deviation of the hallux
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| Focal EEG discharges with secondary generalization
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| Bilateral multifocal epileptiform discharges
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| Epileptiform EEG discharges
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| EEG with hyperventilation-induced focal epileptiform discharges
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| Partial beta-EEG
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| Low voltage EEG
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| Focal epileptiform discharges with limited propagation to contralateral hemisphere
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| Focal EEG discharges with propagation to ipsilateral hemisphere
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| EEG with hyperventilation-induced generalized epileptiform discharges
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| EEG with focal epileptiform discharges
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| Abnormal intraocular pressure
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| Triangular epiphyses of the proximal phalanges of the hand
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| Abnormality of nervous system physiology
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| Irregular epiphyses of the proximal phalanges of the hand
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| Fragmentation of the epiphyses of the proximal phalanges of the hand
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| Enlarged epiphyses of the proximal phalanges of the hand
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| Cone-shaped epiphyses of the proximal phalanges of the hand
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| Stippling of the epiphyses of the proximal phalanges of the hand
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| Small epiphyses of the proximal phalanges of the hand
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| Pseudoepiphyses of the proximal phalanges of the hand
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| Ivory epiphyses of the proximal phalanges of the hand
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| Triangular shaped phalanges of the 5th finger
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| Rhomboid or triangular shaped 5th finger distal phalanx
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| Type A brachydactyly
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| Type A1 brachydactyly
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| Type A2 brachydactyly
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| Type C brachydactyly
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| Broad phalanges of the 5th finger
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| Bullet-shaped phalanges of the 5th finger
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| Aplasia/Hypoplasia of the phalanges of the 5th finger
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| Patchy sclerosis of 5th finger phalanx
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| Benign prostatic hyperplasia
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| Postnatal macrocephaly
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| Metopic suture patent to nasal root
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| Premature posterior fontanelle closure
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| Midline skin dimples over anterior/posterior fontanelles
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| Ureterovesical stenosis
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| Small epiphyses
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| Pseudoepiphyses
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| Triangular epiphyses
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| Shawl scrotum
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| Bifid scrotum
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| Congenital cataract
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| Cataract
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| Abnormality of the scrotum
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| Hypogonadotrophic hypogonadism
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