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| Keratoconus
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| Absent eyelashes
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| Generalized opacification of the cornea
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| Abnormality of corneal epithelium
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| Corneal neovascularization
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| Iris neovascularization
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| Abnormality of Descemet's membrane
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| Impaired collagen-induced platelet aggregation
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| Reduced number of corneal endothelial cells
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| Recurrent gram-negative bacterial infections
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| Decreased serum complement C3
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| Absence of CD8+ T cells
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| Dysfunctional alternative complement pathway
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| Absent specific antibody response
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| Recurrent sinopulmonary infections
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| Severe recurrent varicella
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| Recurrent systemic pyogenic infections
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| Central opacification of the cornea
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| Cutaneous mastocytosis
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| increased serum bile acid concentration during pregnancy
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| Agenesis of lateral incisor
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| Agenesis of mandibular lateral incisor
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| Reduced factor X activity
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| Agenesis of permanent mandibular lateral incisor
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| Abnormal vertebral segmentation and fusion
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| Mydriasis
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| Deep palmar crease
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| Radially deviated wrists
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| Thimble-shaped middle phalanges of hand
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| Tapered phalanx of finger
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| Enlarged epiphysis of the proximal phalanx of the 5th toe
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| Intervertebral disk calcification
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| Tubulointerstitial abnormality
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| Polysplenia
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| Autoamputation
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| Hypoplastic heart
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| Splenomegaly
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| Camptodactyly of 2nd-5th fingers
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| Palpitations
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| Abnormality of the scalp
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| Aplasia/Hypoplasia of metatarsal bones
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| Abnormality of the fingertips
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| Mesangial abnormality
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| Dysplastic patella
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| Poor eye contact
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| Confetti hypopigmentation pattern of lower leg skin
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| Hypoplasia of proximal fibula
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| Basal ganglia gliosis
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| Cerebellar malformation
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| Frontolimbic dementia
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| Alveolar rhabdomyosarcoma
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| Benign genitourinary tract neoplasm
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| Multiple myeloma
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| Myelin-dependent gliosis
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| Anterior basal encephalocele
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| Duodenal carcinoma
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| Diffuse leukoencephalopathy
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| Cutaneous angiolipomas
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| Renal angiomyolipoma
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| Peripheral visual field loss
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| Duplication of the middle phalanx of the 4th toe
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| Duplication of the middle phalanx of the 5th toe
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| Duplication of the distal phalanx of the 5th toe
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| Duplication of the middle phalanx of the 3rd toe
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| Duplication of the proximal phalanx of the 5th toe
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| Complete duplication of the distal phalanx of the 3rd toe
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| Duplication of the proximal phalanx of the 3rd toe
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| Duplication of the proximal phalanx of the 4th toe
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| Complete duplication of the distal phalanx of the 4th toe
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| Complete duplication of the distal phalanx of the 5th toe
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| Feeding difficulties in infancy
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| Irregular epiphysis of the proximal phalanx of the 5th toe
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| Triangular shaped distal phalanges of the hand
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| Abnormality of central motor conduction
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| Motor conduction block
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| Histrionic personality disorder
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| Borderline personality disorder
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| Personality disorder
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| Tonic pupil
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| Abnormal urinary acylglycine profile
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| Aciduria
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| Abnormality of acetylcarnitine metabolism
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| Chondroitin sulfate excretion in urine
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| Chronic hemolytic anemia
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| Perineal fistula
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| Incisional hernia
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| Neonatal inspiratory stridor
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| Spontaneous neonatal pneumothorax
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| Intercostal muscle weakness
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| intermittent hyperventilation
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| Postaxial foot polydactyly
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| Broad phalanges of the 2nd finger
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| Broad toe
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| Abnormality of the proximal fibular epiphysis
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| Paralysis
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| Fatigable weakness
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| Hypocalcemic tetany
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| Sensory impairment
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| Peripheral axonal neuropathy
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| Cryptotia
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