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| Clinodactyly of the 2nd toe
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| Mixed sclerosis of humeral metaphyses
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| Increased serum free triiodothyronine (fT3)
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| Thyroid-stimulating hormone receptor (TSHR) defect
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| Thyrotoxicosis with diffuse goiter
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| Superior rib anomalies
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| Thyrotoxicosis with toxic single thyroid nodule
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| Central hypothyroidism
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| Thyroid hemiagenesis
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| Thyroid C cell hyperplasia
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| Thyroid crisis
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| Thyrotoxicosis from ectopic thyroid tissue
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| Aplasia/Hypoplasia of the sacrum
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| Abnormality of the vertebral spinous processes
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| Aplasia/Hypoplasia of the vertebrae
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| Increased serum pyruvate
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| Central posterior corneal opacity
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| Abnormality of the coccyx
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| Aplasia/Hypoplasia involving the vertebral column
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| Genital neoplasm
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| Partial complement factor H deficiency
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| Gonadal neoplasm
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| Uterine neoplasm
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| Erythema
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| Shoulder dimples
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| Skin dimples
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| Pituitary corticotropic cell adenoma
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| Vivid hallucinations
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| Abnormality of the distal ulnar epiphysis
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| Abnormality of the Leydig cells
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| Abnormality of the anterior horn cell
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| Long-chain dicarboxylic aciduria
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| Childhood-onset short-trunk short stature
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| Curved proximal phalanx of the 3rd toe
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| Sclerosis of distal finger phalanx
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| Transient hyperphenylalaninemia
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| Sclerosis of middle finger phalanx
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| Shortened PR interval
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| Dysplastic pulmonary valve
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| Curved middle phalanx of the 5th toe
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| Total anomalous pulmonary venous return
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| Impaired left ventricular function
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| Sclerosis of the proximal phalanx of the 4th finger
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| Elevated right atrial pressure
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| Sclerosis of the proximal phalanx of the 5th finger
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| Abnormality of the ventricular septum
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| Short middle phalanx of the 2nd toe
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| Aplasia of the middle phalanx of the 2nd toe
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| Short proximal phalanx of the 2nd toe
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| Aplasia of the proximal phalanx of the 2nd toe
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| Short phalanx of the 2nd toe
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| Aplasia of the phalanges of the 2nd toe
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| Short distal phalanx of the 2nd toe
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| Absent distal phalanx of the 2nd toe
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| Abnormality of the curvature of the vertebral column
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| Venous insufficiency
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| Intimal thickening in the coronary arteries
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| Inflammatory arteriopathy
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| Internal carotid artery hypoplasia
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| Premature occlusive vascular disease
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| Occlusive vascular disease
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| Mental deterioration
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| Hemiparesis
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| Choreoathetosis
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| Spastic diplegia
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| Hyporeflexia
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| Somnolence
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| Global developmental delay
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| Dysarthria
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| Vaginal pyocele
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| Vaginal hematocele
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| Vaginal varicocele
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| Vaginal lymphocele
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| Abnormal trabecular bone morphology
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| Elevated tissue non-specific alkaline phosphatase
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| Vaginal hydrocele
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| Vaginal hernia
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| Lack of skin elasticity
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| Premature skin wrinkling
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| Acral ulceration leading to autoamputation of digits
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| Extraadrenal pheochromocytoma
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| Long proximal phalanx of finger
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| Drumstick terminal phalanges
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| Squamous cell carcinoma of the skin
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| Acroosteolysis (feet)
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| Metatarsus adductus
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| Preaxial foot polydactyly
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| Joint swelling onset late infancy
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| Long hallux
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| Abnormality of the hallux
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| Overlapping toe
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| Calcaneovalgus deformity
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| Oligodactyly (feet)
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| Posterior fossa cyst
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| Curved distal phalanx of the 4th toe
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| Anterior sacral meningocele
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| Osteolytic defects of the middle phalanx of the 3rd toe
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| Chaotic rapid conjugate ocular movements
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| Osteolytic defects of the middle phalanx of the 5th toe
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| Osteolytic defects of the proximal phalanx of the 5th toe
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