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| Enlarged epiphysis of the 1st metacarpal
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| Mixed total anomalous pulmonary venous connection
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| Congenital malformation of the right heart
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| Cardiac total anomalous pulmonary venous connection
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| Infracardiac total anomalous pulmonary venous connection
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| Persistent fetal circulation
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| Peroneal muscle weakness
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| Uhl's anomaly
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| Chaotic multifocal atrial tachycardia
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| Elevated circulating catecholamine level
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| Elbow clonus
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| Abnormality of joint mobility
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| Symphalangism affecting the distal phalanx of the 5th toe
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| Pericardial lymphangiectasia
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| Bicuspid pulmonary valve
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| Premature coronary artery disease
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| Tricuspid regurgitation
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| Progressive joint destruction
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| Synovial hypertrophy
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| Global systolic dysfunction
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| Prolonged QTc interval
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| All
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| Tritanomaly
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| Multicystic kidney dysplasia
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| Abolished electroretinogram (ERG)
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| Buphthalmos
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| Retinal dystrophy
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| Leukocoria
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| Autosomal dominant inheritance
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| Functional abnormality of the bladder
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| Abnormality of female internal genitalia
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| Corneal scarring
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| Rieger anomaly
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| Impaired Ig class switch recombination
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| Immune dysregulation
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| Absent primary metaphyseal spongiosa
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| Partial absence of cerebellar vermis
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| Symphalangism affecting the distal phalanx of the 4th toe
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| Vertebral compression fractures
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| Granulomatosis
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| Symphalangism affecting the distal phalanx of the 3rd toe
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| Patchy sclerosis of the distal phalanx of the 4th finger
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| Symphalangism affecting the proximal phalanx of the 4th toe
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| Increased serum beta-hexosaminidase
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| Decreased cranial base ossification
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| Calvarial osteosclerosis
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| Absent/hypoplastic paranasal sinuses
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| Obliteration of frontal sinuses
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| Premature closure of fontanelles
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| Cystic medial necrosis of the aorta
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| Neuronal loss in basal ganglia
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| Anaphylactoid purpura
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| Megaloblastic erythroid hyperplasia
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| Small, conical teeth
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| Abnormal liver function tests during pregnancy
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| CSF lymphocytic pleiocytosis
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| Fusion of the left and right thalami
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| Bilateral coxa valga
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| Tip-toe gait
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| Fusion of midphalangeal joints
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| Decreased palmar creases
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| Enlarged proximal interphalangeal joints
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| Hyperconvex toenail
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| Perifollicular fibrosis
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| Crowded carpal bones
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| Uncombable hair
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| Mitochondrial depletion
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| Sickled erythrocytes
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| Prominent interdigital folds
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| Chronic gastritis
-
| Biliary tract obstruction
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| Single ventricle
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| Pancreatic dysplasia
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| Multinodular goiter
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| High-frequency sensorineural hearing impairment
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| Extramedullary hematopoiesis
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| Elevated maternal serum alpha-fetoprotein
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| Distal symphalangism (hands)
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| Abnormal thrombosis
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| Leukocytosis
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| Congenital muscular torticollis
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| Macrocytic anemia
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| Autoimmune thrombocytopenia
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| Tubulointerstitial nephritis
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| Hypersplenism
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| Dyscalculia
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| Renal pelvic carcinoma
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| Anal canal squamous carcinoma
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| Papillary renal cell carcinoma
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| Pituitary prolactin cell adenoma
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| Alobar holoprosencephaly
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| Dysplastic corpus callosum
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| Upper limb spasticity
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| Limb dysmetria
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| Distal sensory loss of all modalities
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| Thickened superior cerebellar peduncle
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| Positive Romberg sign
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| Slowly progressive spastic quadriparesis
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| Stroke-like episodes
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| Astrocytosis
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