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| Cartilaginous ossification of larynx
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| Abnormality of the aryepiglottic fold
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| Cholestasis
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| Laryngeal hypoplasia
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| Hepatic fibrosis
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| Abnormality of the tibial metaphysis
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| Premature fusion of phalangeal epiphyses
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| Broad metacarpal epiphyses
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| Progressive fusion 2nd-5th pip joints
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| Ivory epiphysis of the proximal phalanx of the 4th toe
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| Shortening of all proximal phalanges of the fingers
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| Facial palsy
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| Abnormality of the cortex of the humerus
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| Malar prominence
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| Cutaneous syndactyly of toes
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| Neoplasm of the skeletal system
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| Cone-shaped epiphysis of the proximal phalanx of the 4th toe
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| Aplastic/hypoplastic toenail
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| Anterior pituitary dysgenesis
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| Anterior pituitary agenesis
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| Anterior pituitary hypoplasia
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| Abnormality of the eyelid
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| Abnormality of the fovea
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| Deeply set eye
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| Keratitis
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| Abnormality of eye movement
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| Globe retraction and deviation on abduction
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| Downslanted palpebral fissures
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| Recurrent corneal erosions
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| Abnormality of the metaphyses
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| Flared irregular metaphyses
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| Hypoplastic ilia
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| Dumbbell-shaped long bone
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| Abnormal diaphysis morphology
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| Short diaphyses
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| Dysostosis multiplex
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| Erythroderma
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| Abnormal palmar dermatoglyphics
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| Abnormality of the ileum
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| Overgrowth
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| Diaphoresis (with pheochromocytoma)
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| Hypopigmentation of the skin
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| Anteriorly placed anus
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| Diaphyseal cortical sclerosis
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| Irregular, rachitic-like metaphyses
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| irregular proximal humeral metaphyses
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| Ascites
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| Irregular capital femoral epiphysis
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| Angiosarcoma
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| Metastatic angiosarcoma
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| Dysdiadochokinesis
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| Coronary artery calcification
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| Abnormal ossification of the trapezium
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| Small thenar eminence
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| Absence of lymph node germinal center
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| Specific anti-polysaccharide antibody deficiency
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| Stippling of the epiphysis of the distal phalanx of the 4th toe
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| Triangular epiphysis of the distal phalanx of the 4th toe
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| Pseudoepiphysis of the distal phalanx of the 4th toe
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| Small epiphysis of the distal phalanx of the 4th toe
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| Irregular epiphysis of the distal phalanx of the 4th toe
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| Ivory epiphysis of the distal phalanx of the 4th toe
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| Enlarged epiphysis of the distal phalanx of the 4th toe
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| Increased number of peripheral CD3+ T cells
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| Bracket epiphysis of the distal phalanx of the 4th toe
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| Cone-shaped epiphysis of the distal phalanx of the 4th toe
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| Embryonal neoplasm
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| Limited wrist movement
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| Bronchial cartilage hypoplasia
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| Recurrent bronchopulmonary infections
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| Thyroid carcinoma
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| Obstructive lung disease
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| Recurrent intrapulmonary hemorrhage
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| Pituitary adenoma
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| Bronchodysplasia
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| Recurrent pneumonia
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| Pleural lymphangiectasia
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| Interstitial pulmonary disease
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| Lymphadenitis
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| Temporal cortical atrophy
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| Central hypoventilation
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| Chronic hepatic encephalopathy
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| Corticospinal tract atrophy
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| Orbital encephalocele
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| Absent hallux
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| Abnormality of valine metabolism
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| Reduced carnitine O-palmitoyltransferase activity
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| Pneumonia
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| Restrictive lung disease
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| Pulmonary hypertension
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| Respiratory insufficiency
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| Dyspnea
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| Bidirectional shunt
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| Emphysema
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| Respiratory distress
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| Asthma
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| Abnormal blood gas level
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| Duodenal atrophy
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| Hypocapnia
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| Hypercapnia
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