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| Broad femoral head
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| Late onset
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| Insidious onset
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| Adult onset
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| Acetabular dysplasia
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| Palmoplantar cutis laxa
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| Microspherocytosis
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| Acute promyelocytic leukemia
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| Esophageal leukoplakia
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| Decreased scrotal rugation
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| Scrotal hyperpgimentation
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| Thickening of the glomerular basement membrane
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| Increased scrotal rugation
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| Abnormal scrotal rugation
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| Colonic stenosis
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| Small intestinal dysmotility
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| Scrotal hypospadias
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| Recurrent thromboembolism
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| Calcium nephrolithiasis
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| Mitten deformity
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| Sclerosis of hand bone
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| Impaired renal concentrating ability
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| Delayed ossification of the hand bones
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| Dysharmonic maturation of the hand bones
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| Absent hand
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| Advanced ossification of the hand bones
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| Acute tubulointerstitial nephritis
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| Monodactyly (hands)
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| Radial club hand
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| Abnormality of the testis
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| Partial duplication of the phalanges of the 2nd finger
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| Dilated cardiomyopathy
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| Sudden cardiac death
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| Severe osteoporosis
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| Short curly eyelashes
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| Bicuspid aortic valve
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| Cardiomegaly
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| Abnormality of the pulmonary valve
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| Generalized hypopigmentation
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| Patent ductus arteriosus
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| Headache (with pheochromocytoma)
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| Paroxysmal drowsiness
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| Motor deterioration
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| Irregular epiphysis of the proximal phalanx of the 4th finger
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| Ivory epiphysis of the proximal phalanx of the 4th finger
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| Enlarged epiphysis of the proximal phalanx of the 4th finger
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| Lack of peer relationships
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| Bracket epiphysis of the proximal phalanx of the 4th finger
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| Cone-shaped epiphysis of the proximal phalanx of the 4th finger
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| Triangular epiphysis of the distal phalanx of the 4th finger
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| Absent epiphysis of the proximal phalanx of the 4th finger
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| Varus deformity of humeral neck
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| Pseudoepiphysis of the proximal phalanx of the 4th finger
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| Abnormality of the cerebellar vermis
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| Abnormality of the tibia
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| Urinary tract atresia
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| Penoscrotal hypospadias
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| Spontaneous rupture of the globe
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| Prominent corneal nerve fibers
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| Abnormal hair whorl
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| Abnormal hair pattern
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| Cystic lesions of the pinnae
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| Hypoplasia of the thymus
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| Abnormality of the thymus
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| Cystic renal dysplasia
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| Abnormality of the diaphragm
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| Impotence
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| Enuresis
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| Xanthine nephrolithiasis
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| Gynecomastia
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| EEG with multifocal slow activity
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| Aplasia/Hypoplasia of the 4th toe
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| Polydactyly affecting the 3rd toe
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| Cardiac diverticulum
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| Abnormality of the epiphyses of the 4th toe
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| Severe hydrops fetalis
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| Thumbs hypoplastic with bulbous tips
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| Nonopposable triphalangeal thumb
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| Distal femoral bowing
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| Shoe-shaped sella turcica
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| Hyperextensible thumb
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| Absent proximal radial epiphyses
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| Streaky metaphyseal sclerosis
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| Scapulohumeral muscular dystrophy
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| Abnormality of the genitourinary system
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| Phenotypic abnormality
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| Thoracolumbar interpediculate narrowness
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| Polycystic kidney dysplasia
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| Nephropathy
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| Renal juxtaglomerular cell hypertrophy/hyperplasia
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| Renal dysplasia
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| Renal phosphate wasting
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| Proximal tubulopathy
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| Lumbar interpedicular narrowing
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| Cervical spondylosis
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| EEG with frontal sharp slow waves
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| Clinodactyly of the 4th finger
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| EEG with central sharp slow waves
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| Clinodactyly of the thumb
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| Clinodactyly of the 2nd finger
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