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| Triangular epiphysis of the middle phalanx of the 4th toe
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| Absent epiphysis of the proximal phalanx of the 4th toe
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| Bracket epiphysis of the proximal phalanx of the 4th toe
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| Heberden's node
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| Pseudoepiphysis of the proximal phalanx of the 4th toe
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| Small epiphysis of the proximal phalanx of the 4th toe
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| Heinz body anemia
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| Impaired neutrophil killing of staphylococci
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| Adrenocorticotropic hormone excess
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| Thin nail
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| Thin clavicles
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| Appendicular hypotonia
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| Acute bronchitis
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| Thoracic dysplasia
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| Camptodactyly
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| Rhinitis
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| Bronchitis
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| Histiocytoma
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| Delayed self-feeding during toddler years
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| Gastroschisis
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| Childhood-onset truncal obesity
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| Left-to-right shunt
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| Intermittent cerebellar ataxia
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| Calf muscle hypertrophy
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| Sensorimotor polyneuropathy affecting arms more than legs
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| Bilateral conductive hearing impairment
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| Multiple rib fractures
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| Stippling of the epiphysis of the middle phalanx of the 5th toe
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| Triangular epiphysis of the middle phalanx of the 5th toe
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| Abnormal platelet membrane protein expression
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| Decreased platelet glycoprotein Ib-IX-V
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| Cone-shaped epiphysis of the proximal phalanx of the 5th toe
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| Fused sternal ossification centers
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| Absent epiphysis of the proximal phalanx of the 5th toe
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| Bracket epiphysis of the proximal phalanx of the 5th toe
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| Impaired thrombin-induced platelet aggregation
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| Abnormal platelet count
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| Impaired arachidonic acid-induced platelet aggregation
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| Hypoplasia of the brainstem
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| Abnormal platelet volume
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| Increased mean platelet volume
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| Heparin-induced thrombocytopenia
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| Abnormal platelet morphology
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| Pyramidal skinfold extending from the base to the top of the nails
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| Neck pterygia
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| Agenesis of the diaphragm
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| Cleft in skull base
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| Aplasia of the pectoralis major muscle
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| Popliteal pterygium
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| Intercrural pterygium
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| Fibrous syngnathia
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| Ankyloblepharon
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| Proximally placed lunate
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| Lunate-triquetral fusion
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| Abnormality of the trapezium
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| Absent trapezium
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| Delayed ossification of the trapezium
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| Small trapezium
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| Abnormality of the trapezoid bone
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| Delayed ossification of the trapezoid bone
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| Small trapezoid bone
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| Abnormality of the hamate bone
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| Gaze-evoked horizontal nystagmus
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| Plantar pits
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| Congenital ptosis
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| Lamellar cataract
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| Retinal dysplasia
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| Hypometric horizontal saccades
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| Cerulean cataract
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| Fibroma
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| Enlarged cochlear aqueduct
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| Functional abnormality of the inner ear
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| Cardiac fibroma
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| Morphological abnormality of the semicircular canal
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| Aplasia of the semicircular canal
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| Hypoplasia of the semicircular canal
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| Polydactyly affecting the 4th toe
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| Abnormality of the internal auditory canal
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| Absent internal auditory canal
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| Narrow internal auditory canal
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| Enlarged vestibular aqueduct
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| Short 2nd finger
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| Flexion contracture of the 2nd finger
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| Triangular epiphysis of the proximal phalanx of the 2nd finger
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| Aplasia of the 2nd finger
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| Small epiphysis of the proximal phalanx of the 2nd finger
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| Stippling of the epiphysis of the proximal phalanx of the 2nd finger
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| Ivory epiphysis of the proximal phalanx of the 2nd finger
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| Pseudoepiphysis of the proximal phalanx of the 2nd finger
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| Congenital generalized lipodystrophy
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| Contracture of the distal interphalangeal joint of the 2nd finger
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| Contracture of the metacarpophalangeal joint of the 2nd finger
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| Abnormality of the orbital region
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| Facial myokymia
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| Hypertelorism
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| Round face
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| Loss of ability to walk in first decade
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| Smooth philtrum
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| Abnormality of epidermal morphology
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| Abnormality of dermal melanosomes
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