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| Glossitis
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| Pursed lips
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| Cleft upper lip
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| Macronodular adrenal hyperplasia
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| Rootless teeth
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| Abnormality of dental color
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| Abnormality of molar morphology
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| Abnormality of permanent molar morphology
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| Abnormality of premolar
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| Abnormality of molar
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| Localized hypoplasia of dental enamel
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| Green teeth
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| Abnormality of canine
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| Abnormality of liposaccharide metabolism
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| Abnormality of the vocal cords
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| Abnormality of the renal artery
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| Abnormality of the prostate
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| Aplasia/Hypoplasia of the inner ear
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| Aplasia/Hypoplasia of the middle ear
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| Aplasia/Hypoplasia of the external ear
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| Aplasia/Hypoplasia of the ear
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| Obsessive-compulsive trait
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| Abnormality of phagocytes
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| CSF polymorphonuclear pleocytosis
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| Macular hypopigmentation
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| Abnormal neuron morphology
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| Triangular shaped middle phalanges of the toes
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| Neoplasm of the stomach
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| Neurodevelopmental delay
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| Neurodevelopmental abnormality
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| Patchy variation in bone mineral density
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| Patchy changes of bone mineral density
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| Epiphyseal stippling
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| Aplasia of the falx cerebri
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| Patchy reduction of bone mineral density
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| Abnormal epiphyseal ossification
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| Abnormality of the meninges
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| Premaxillary underdevelopment
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| Abnormality of the falx cerebri
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| Abnormality of the dura mater
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| Joint swelling
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| Hyperextensibility at wrists
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| Proximal radial head dislocation
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| Decreased fetal movement
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| Accumulation of melanosomes in melanocytes
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| Telangiectasia
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| Hypotrichosis
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| Asymmetry of the thorax
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| Lymphedema
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| Prenatal movement abnormality
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| Decreased subcutaneous fat
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| Abnormality of the umbilicus
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| Barrel-shaped chest
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| Abnormality of subcutaneous fat tissue
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| Postaxial polydactyly type A
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| Partial fusion of proximal row of carpal bones
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| Joint hyperflexibility
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| Small epiphysis of the distal phalanx of the 3rd toe
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| Pseudoepiphysis of the distal phalanx of the 3rd toe
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| Ivory epiphysis of the distal phalanx of the 3rd toe
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| Irregular epiphysis of the distal phalanx of the 3rd toe
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| Bracket epiphysis of the middle phalanx of the 3rd toe
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| Absent epiphysis of the middle phalanx of the 3rd toe
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| Triangular epiphysis of the distal phalanx of the 3rd toe
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| Stippling of the epiphysis of the distal phalanx of the 3rd toe
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| Enlarged epiphysis of the middle phalanx of the 3rd toe
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| Cone-shaped epiphysis of the middle phalanx of the 3rd toe
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| Sparse scalp hair
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| Coarse hair
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| Chronic lung disease
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| Abnormal pulmonary lymphatics
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| Tracheobronchial leiomyomatosis
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| Lung segmentation defects
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| Elevated alpha-fetoprotein
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| Pleural effusion
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| Recurrent respiratory infections
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| Pulmonary embolism
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| Diffuse reticular or finely nodular infiltrations
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| Pulmonary fibrosis
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| Aplasia of the 3rd finger
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| Hyposthenuria
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| Hyperoxaluria
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| Abnormality of the seventh cranial nerve
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| Retinal pigment epithelial atrophy
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| Cerebellar medulloblastoma
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| Esophageal duplication
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| Abnormal pupillary light reflex
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| Proximal amyotrophy
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| Hypoplasia of the lower eyelids
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| Subcortical dementia
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| Map-dot-fingerprint corneal dystrophy
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| Increased circulating ACTH level
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| Nonnuclear polymorphic congenital cataract
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| Salivary gland neoplasm
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| Enlarged epiphyses of the distal phalanges of the hand
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| Enthesitis
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| Partial duplication of the proximal phalanx of the 5th toe
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| Contracture of the metatarsophalangeal joint of the 3rd toe
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| Broad middle phalanx of the 4th toe
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| Proportionate tall stature
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