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| Type I cryptotia
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| Bifid antitragus
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| Underdeveloped antitragus
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| Crus of helix connected to antihelix
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| Serpiginous crus of helix
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| Type II cryptotia
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| Absent crus of helix
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| Narrow foramen obturatorium
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| Multiple bladder diverticula
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| Urachal cyst
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| Reduced factor V activity
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| Dense metaphyseal bands
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| Increased urinary sulfate
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| Abnormal urinary sulfate concentration
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| Increased urinary urate
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| Abnormality of urinary uric acid concentration
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| Erythrocyte cylindruria
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| Leukocyte cylindruria
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| Cylindruria
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| Abnormal urine cytology
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| Proximal/middle symphalangism of 2nd toe
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| Intraventricular arachnoid cyst
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| Acute encephalopathy
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| Subluxation of metacarpal phalangeal joints
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| Abnormality of the gastric mucosa
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| Abnormality of gastrointestinal vasculature
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| Abnormality of the biliary system
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| Sclerosis of hand bones with transverse striations
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| Stippled calcification of hand bones
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| Undermodelled hand bones
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| Synostosis of second metacarpal-trapezoid
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| Absent patellar reflexes
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| Abnormality of the abdominal wall
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| Hernia of the abdominal wall
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| Long chain 3 hydroxyacyl coA dehydrogenase deficiency
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| Symphalangism of the proximal phalanx of the 2nd toe with the 2nd metatarsal
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| Hypodysplasia of the corpus callosum
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| Hypoplastic facial bones
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| Proximal/middle symphalangism of 4th toe
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| Open operculum
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| Progressive retinal degeneration
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| Triangular shaped distal phalanx of the 5th toe
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| Labial pseudohypertrophy
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| Partially duplicated kidney
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| Dysplastic testes
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| Renal hypophosphatemia
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| Twelfth rib hypoplasia
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| Hypoplasia of penis
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| Decreased testicular size
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| Midline defect of the nose
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| Radially displaced proximal index finger phalanx
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| Conjunctival amyloidosis
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| Abnormality of renal excretion
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| Decreased urine output
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| Amyloidosis
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| Abnormality of the renal cortex
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| Abnormality of fluid regulation
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| Impairment of fructose metabolism
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| Abnormality of transition element cation homeostasis
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| Abnormality of iron homeostasis
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| Abnormality of renal resorption
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| Abnormality of the helix
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| Expanded terminal portion of crus of helix
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| Growth delay
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| Intrauterine growth retardation
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| Obesity
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| Small for gestational age
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| Disproportionate tall stature
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| Aplasia/Hypoplasia of the phalanges of the 2nd toe
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| Megalocornea
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| Flexion contracture of the 5th toe
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| Deviation of the 5th toe
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| Aplasia/Hypoplasia of the 5th toe
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| Abnormality of the phalanges of the 5th toe
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| Abnormality of the epiphyses of the 5th toe
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| Hyperopic astigmatism
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| Fibroma of the breast
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| Ovarian fibroma
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| Bullet-shaped 2nd toe phalanx
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| Broad phalanges of the 2nd toe
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| Single transverse palmar crease
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| Hyperpigmentation of the skin
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| Broad 4th toe
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| Retinal coloboma
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| Generalized lipodystrophy
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| Progressive spinal muscular atrophy
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| Scapular muscle atrophy
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| Astigmatism
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| Infantile axial hypotonia
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| Progressive distal muscle weakness
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| Parietal foramina
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| Lethal infantile mitochondrial myopathy
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| Broad 5th toe
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| Hyperhidrosis
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| Hyperextensible skin
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| Soft skin
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| Eczematoid dermatitis
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| Abnormality of the sweat gland
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| Anhidrosis
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| Cutis laxa
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