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| Tetralogy of Fallot with pulmonary atresia and major aortopulmonary collateral arteries
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| Tetralogy of Fallot with pulmonary stenosis
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| Left superior vena cava draining to coronary sinus
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| Interrupted inferior vena cava with azygous continuation
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| Cardiac myxoma
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| Cardiac hemangioma
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| Cardiac teratoma
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| Arrhythmia
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| Tetralogy of Fallot with absent subarterial conus
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| Tetralogy of Fallot with atrioventricular canal defect
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| Bifid nasal tip
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| Depressed nasal ridge
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| Flared nostrils
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| Atonic seizures
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| Broad nasal tip
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| Abnormal number of hair whorls
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| Choanal stenosis
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| Narrow uvula
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| Long uvula
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| Linear nevus sebaceous
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| Epidermal nevus
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| Nevus sebaceous
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| Choanal atresia
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| Prominent nose
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| Pugilistic facies
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| Hypomimic face
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| Broad forehead
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| Prominent supraorbital ridges
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| Wide nose
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| Convex nasal ridge
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| Short chin
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| Narrow nasal bridge
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| Metacarpal periosteal thickening
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| Abnormal urine output
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| Ulnar deviated club hands
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| Dupuytren contracture
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| Anterior atlanto-occipital dislocation
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| Neonatal hypotonia
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| Giant somatosensory evoked potentials
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| Dysmetria
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| Abnormal nervous system electrophysiology
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| Abnormality of the cerebellum
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| Reduced tendon reflexes
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| Abnormality of the sacroiliac joint
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| Conjunctival hamartoma
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| Breast aplasia
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| Insomnia
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| Peripheral arteriovenous fistula
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| Prostate neoplasm
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| Hypersomnia
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| Torus palatinus
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| Neoplasm of the heart
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| Midclavicular aplasia
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| Alveolar process hypoplasia
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| Stercoral ulcer
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| Hypoplastic distal segments of scapulae
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| Glenoid fossa hypoplasia
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| Osteosclerosis of ribs
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| Sternal punctate calcifications
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| Large hands
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| Preaxial hand polydactyly
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| Optic disc drusen
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| Abnormality of the thumb
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| Split hand
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| Bullet-shaped distal phalanx of the 4th toe
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| Amniotic constriction rings of arms
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| Ulnar claw
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| Bowel urgency
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| Abnormal vertebral ossification
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| Neoplasm of the endocrine system
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| Hydromyelia
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| Triplomyelia
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| Amyelia
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| Spinal cord lesions
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| Upper limb asymmetry
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| Diastomatomyelia
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| Diplomyelia
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| Short femoral neck
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| Abnormal large intestine physiology
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| Hypokinesia
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| Diminished movement
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| Paraganglioma-related cranial nerve palsy
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| Developmental regression
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| Loss of speech
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| Poor coordination
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| Febrile seizures
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| Normal interictal EEG
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| Hand tremor
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| Broad ischia
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| Congenital intracerebral calcification
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| Congenital absence of foreskin
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| Peripheral vascular insufficiency
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| Increased serum lactate
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| Hypercalciuria
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| Hyperkalemia
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| Hyperproteinemia
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| Hypertriglyceridemia
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| Hyperglycinemia
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| Azotemia
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| Homocystinuria
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