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| Pseudoepiphysis of the middle phalanx of the 2nd finger
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| Triangular epiphysis of the middle phalanx of the 2nd finger
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| Stippling of the epiphysis of the middle phalanx of the 2nd finger
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| Bracket epiphysis of the proximal phalanx of the 2nd finger
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| Absent epiphysis of the proximal phalanx of the 2nd finger
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| Enlarged epiphysis of the proximal phalanx of the 2nd finger
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| Heterogeneous
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| Irregular epiphysis of the proximal phalanx of the 2nd finger
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| Fragmentation of the epiphysis of the proximal phalanx of the 2nd finger
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| Endometrial carcinoma
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| Hepatitis
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| Abnormal albumin level
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| Megalencephaly
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| Hypoplasia of the pons
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| Abnormality of circulating glucocorticoid level
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| Abnormality of circulating corticosterone level
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| Abnormality of creatine metabolism
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| Laryngeal carcinoma
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| Methemoglobinemia
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| Atrophy/Degeneration involving motor neurons
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| Jerk-locked premyoclonus spikes
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| Tinnitus
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| Pulsatile tinnitus (tympanic paraganglioma)
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| Otosclerosis
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| Abnormality of earlobe
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| Hearing abnormality
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| Hearing impairment
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| Abnormality of the nose
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| Low-set, posteriorly rotated ears
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| Low-set ears
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| Non-pruritic urticaria
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| Aplasia of the sweat glands
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| Aplasia/Hypoplasia of the sweat glands
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| Low-grade fever
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| Increased sensitivity to ionizing radiation
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| Chronic furunculosis
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| Perianal rash
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| Upper limb postural tremor
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| Patent ductus arteriosus after premature birth
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| Patent ductus arteriosus after birth at term
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| Irregular vertebral endplates
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| Gastric duplication
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| Abnormality of skin adnexa
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| Hyperlordosis
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| Hypoplastic cervical vertebrae
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| Corpus callosum atrophy
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| Absent/hypoplastic coccyx
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| Bifid thoracic vertebrae
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| Anterior beaking of lumbar vertebrae
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| Anterior wedging of L1
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| Reversed usual vertebral column curves
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| Recurrent lower respiratory tract infections
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| Vertebral arch anomaly
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| Lumbar hemivertebrae
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| Clinodactyly of the 3rd finger
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| Radial deviation of the 5th finger
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| Juvenile epithelial corneal dystrophy
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| Adrenal calcification
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| Pituitary calcification
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| Hypermobility of toe joints
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| Long toe
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| Thymus hyperplasia
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| Ectopic thymus tissue
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| Hyperpituitarism
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| Aplasia/Hypoplasia of the thymus
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| Thyroglossal cyst
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| Increased fetal movement
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| Punctate corneal epithelial erosions
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| Band keratopathy
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| Shallow orbits
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| Abnormality of the optic nerve
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| Pigmentary retinopathy
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| Blepharophimosis
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| Upslanted palpebral fissure
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| Aglossia
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| Optic nerve coloboma
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| Coloboma
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| Abnormal sialylation of N-linked protein glycosylation
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| Decreased galactosylation of N-linked protein glycosylation
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| Craniosynostosis
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| Skull defect
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| Nystagmus-induced head nodding
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| Holoprosencephaly
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| Abnormal joint morphology
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| Ectopic anterior pituitary gland
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| Arthritis
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| Gangrene
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| Clubbing of fingers
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| Abnormal biliary tract physiology
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| Abnormal liver lobulation
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| Schizophrenia
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| Atelectasis
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| Abnormal gallbladder physiology
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| Pancreatoblastoma
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| Mania
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| Proteinuria
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| Abnormal gallbladder morphology
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| Anorectal anomaly
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| Decreased resting energy expenditure
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| Microsaccadic pursuit
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