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| Hypopigmented skin patches
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| Nevus flammeus
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| Increased anterioposterior diameter of thorax
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| Pterygium
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| Poor wound healing
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| Abnormality of the epiphyses of the hand
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| Abnormalities of the cortex of hand bones
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| Synostosis involving the fibula
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| Defect in the atrial septum
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| Abnormality of the mitral valve
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| Congestive heart failure
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| Mitral valve prolapse
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| Abnormality of the myocardium
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| Tetralogy of Fallot
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| Hypertrophic cardiomyopathy
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| Cardiomyopathy
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| Pectoral muscle hypoplasia/aplasia
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| Notched ulna
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| Long ulna
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| Enlarged epiphysis of the distal phalanx of the 3rd toe
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| Fragmentation of the epiphysis of the distal phalanx of the 3rd toe
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| Mitochondrial respiratory chain defects
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| Broad radius
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| Pseudarthrosis of the radius
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| Small epiphysis of the proximal phalanx of the 2nd toe
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| Absent ulna
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| Exostoses of the ulna
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| Posteriorly dislocated ulna
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| Fractured ulna
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| Exostoses of the radius
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| Atrial cardiomyopathy
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| Chronic active hepatitis
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| Generalized hirsutism
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| Sparse body hair
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| Patchy alopecia
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| Hypersegmentation of proximal phalanx of second finger
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| Hypermobility of distal interphalangeal joints
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| Widened distal phalanges
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| Decreased movement range in interphalangeal joints
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| Osteolysis of scaphoids
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| Gastrointestinal hemorrhage
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| Chronic hepatitis
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| Partial-complete absence of 5th phalanges
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| Metaphyseal cupping of proximal phalanges
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| Biventricular hypertrophy
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| Calcific mitral stenosis
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| Flat acetabular roof
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| Wide pubic symphysis
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| Shallow acetabular fossae
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| Small sacroiliac notches
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| Decreased hip abduction
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| Breast hypoplasia
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| Inverted nipples
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| Long nose
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| Iliac crest serration
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| Tombstone-shaped proximal phalanges
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| Limited interphalangeal movement
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| Duodenal ulcer
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| Gastrointestinal atresia
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| Peritonitis
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| Projectile vomiting
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| Intestinal bleeding
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| Abnormality of the peritoneum
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| Chronic atrophic gastritis
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| Colitis
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| Volvulus
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| Ectopic supraventricular rhythms
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| Hemifacial seizures
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| Polymorphic and polytopic ventricular extrasystoles
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| Frontal encephalocele
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| Abnormality of the femoral head
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| Bilateral convulsive seizures
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| Recurrent encephalopathy
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| Arthralgia of the hip
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| Abnormality of the femoral neck
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| Abnormality of the femoral neck and head region
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| Tryptophanuria
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| Abdominal situs inversus
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| Increased circulating very-low-density lipoprotein cholesterol
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| Short chordae tendineae of the tricuspid valve
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| Myocardial steatosis
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| Decreased sialylation of O-linked protein glycosylation
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| Abnormal sialylation of O-linked protein glycosylation
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| Increased fucosylation of O-linked protein glycosylation
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| Decreased fucosylation of O-linked protein glycosylation
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| Extra fontanelles
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| Basilar invagination
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| Hypophosphaturia
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| Decreased urinary potassium
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| Malar anomaly
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| Thyroid hormone receptor defect
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| Depressed nasal tip
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| Abnormality of the twelfth cranial nerve
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| Stippling of the epiphysis of the distal phalanx of the 2nd toe
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| Anomaly of the upper limb diaphyses
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| Abnormality of upper limb metaphysis
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| Nephrogenic diabetes insipidus
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| Reduced number of teeth
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| Low-output congestive heart failure
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| Aplasia of the phalanges of the hand
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