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| Localized
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| Horizontal crus of helix
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| Unilateral
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| Bilateral
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| Laterality
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| Abnormality of the antitragus
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| Generalized
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| Spatial pattern
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| Left
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| Right
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| Short fifth metatarsal
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| Decreased number of CD4+ T cells
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| Pectoralis major hypoplasia
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| Generalized distal tubular acidosis
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| Sclerosis of the middle phalanx of the 3rd toe
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| Impairment of galactose metabolism
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| Sclerosis of the middle phalanx of the 4th toe
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| Mitral valve arcade
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| Common atrium
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| Cor triatriatum dexter
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| Abnormality of the capitate bone
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| Curved proximal phalanx of the 4th finger
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| Aplasia/Hypoplasia of the distal phalanx of the 4th finger
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| Straddling atrioventricular valve
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| Abnormal ventriculo-arterial connection
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| Abnormality of the proximal phalanx of the 4th finger
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| Curved phalanges of the 4th finger
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| Curved distal phalanx of the 4th finger
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| Curved middle phalanx of the 4th finger
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| Short 4th finger
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| Aplasia of the 4th finger
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| Abnormality of the distal phalanx of the 4th finger
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| Narrow carpal joint spaces
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| Narrow small joints of the hand
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| Bicarbonate-wasting renal tubular acidosis
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| Sclerosis of the middle phalanx of the 5th toe
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| Short metatarsal
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| Edema of the upper limbs
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| Broad philtrum
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| Abnormality of the philtrum
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| Medial flaring of the eyebrow
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| T lymphocytopenia
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| Aplasia of the phalanges of the toes
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| Absent metatarsal bone
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| Broad face
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| Facial edema
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| Blepharochalasis
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| Coarse facial features
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| Increased facial adipose tissue
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| Epicanthus
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| Abnormality of glycolipid metabolism
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| Abnormality of the ocular region
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| Lack of insight
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| Agoraphobia
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| Personality changes
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| Delayed speech and language development
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| Autism with high cognitive abilities
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| Hyperactivity
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| Abnormality of the peripheral nervous system
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| Impaired use of nonverbal behaviors
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| Sclerotic cranial sutures
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| Prefrontal hypometabolism in FDG PET
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| Uterine leiomyoma
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| Abnormality of the uterus
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| Gonadal dysgenesis
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| Menorrhagia
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| Hypogonadism
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| Female hypogonadism
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| Abnormality of the ovary
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| Bifid uterus
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| Uterine prolapse
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| Ovarian cyst
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| Ventouse delivery
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| Abnormality of corneal shape
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| Absent pigmentation of chest
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| Mortality/Aging
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| Hyperparakeratosis
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| Aplasia of facial bones
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| Congenital glaucoma
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| Bilateral triphalangeal thumbs
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| Papilledema
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| Cholecystitis
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| Increased bone density with cystic changes
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| Biliary tract abnormality
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| Cholelithiasis
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| Herpes simplex encephalitis
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| 2-3 toe cutaneous syndactyly
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| Brushfield spots
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| Iris atrophy
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| Abnormality of neutrophil physiology
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| Anterior cerebral artery stenosis
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| Pseudoepiphyses of the distal phalanges of the hand
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| Impaired neutrophil bactericidal activity
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| Gray matter heterotopias
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| Enlarged cisterna magna
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| Global brain atrophy
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| Heterotopia
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| Progressive alopecia
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| Fair hair
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| Alopecia universalis
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