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| Ivory epiphyses of the 2nd toe
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| Stippling of the epiphyses of the 2nd toe
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| Small epiphyses of the 2nd toe
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| Paroxysmal lethargy
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| Hypoglycorrhachia
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| Dermatographic urticaria
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| Cerebral amyloid angiopathy
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| Elevated urinary homovanillic acid
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| Elevated urinary catecholamines
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| Aminoglycoside-induced hearing loss
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| Myelofibrosis
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| Elevated urinary dopamine
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| Elevated urinary vanillylmandelic acid
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| Cranium bifidum occultum
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| Biparietal narrowing
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| Elevated systolic blood pressure
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| Arterial thrombosis
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| Abnormality of the cheeks
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| Flat forehead
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| Cone-shaped epiphysis of the middle phalanx of the 5th finger
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| Recurrent viral infections
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| Elfin facies
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| Reduced ratio of renal calcium clearance to creatinine clearance
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| Severe short stature
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| Choroidal hemangiomata
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| Congenital blindness
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| Birth length greater than 97th percentile
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| Deficiency or absence of cytochrome b(-245)
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| Juvenile cortical cataract
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| Allergic conjunctivitis
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| Absent epiphysis of the middle phalanx of the 5th finger
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| Duplication of the proximal phalanx of the thumb
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| Duplication of the distal phalanx of the thumb
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| Bifid distal phalanx of the thumb
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| Abnormality of the distal phalanx of the thumb
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| Bifid first metacarpal
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| Complete duplication of the first metacarpal
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| Bifid proximal phalanx of the thumb
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| Abnormality of the proximal phalanx of the thumb
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| Congenital pyloric atresia
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| Peptic ulcer
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| Abnormality of the ciliary body
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| Retinal neoplasm
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| Reduced arm span
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| Increased arm span
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| Abnormal upper to lower segment ratio
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| Reduced upper to lower segment ratio
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| Sclerosis of the 1st metacarpal
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| Hamartomatous polyps
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| Prune belly
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| Malnutrition
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| Multiple gastric polyps
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| Ectopic anus
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| Poor appetite
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| Pustule
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| Cystinuria
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| Premaxillary Prominence
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| Abnormality of the columella
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| Thick nasal alae
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| Aplasia/Hypoplasia involving the nose
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| Aplasia of the nose
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| Increased lacrimation
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| Duane anomaly
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| Nevus of Ota
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| Persistence of the hyaloid artery
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| Hypertrophic labia minora
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| Transient nephrotic syndrome
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| Renal hamartoma
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| Hypoplasia of the fallopian tube
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| Solitary bladder diverticulum
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| Redundant skin on fingers
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| Sclerosis of proximal finger phalanx
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| Tall stature
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| Glomerulonephritis
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| Glomerulosclerosis
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| Focal segmental glomerulosclerosis
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| Abnormality of the glomerulus
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| Tubular atrophy
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| Edema of the dorsum of hands
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| Nephronophthisis
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| Abnormality of the renal tubule
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| Hypoplastic pilosebaceous units
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| Abnormality of facial soft tissue
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| Renal oncocytoma
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| Papillary renal cell carcinoma type 1
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| Perilobar nephroblastomatosis
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| Intralobar nephroblastomatosis
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| Embryonal renal neoplasm
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| Neoplasm by anatomical site
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| Neoplasm by histology
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| Inactivating thyroid-stimulating hormone receptor (TSHR) defect
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| Midline brain calcifications
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| Focal dermal aplasia/hypoplasia
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| Skull asymmetry
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| Mottled pigmentation of photoexposed areas
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| Flexion contracture of the 4th toe
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| Posterior helix pit
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| Congenital sensorineural hearing impairment
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| Long hairs growing from helix of pinna
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| Absence of acoustic reflex
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