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| Small fontanelle
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| Prominent metopic ridge
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| Postnatal microcephaly
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| Abnormality of the alternate complement pathway
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| Abnormality of the epiglottis
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| Urethral atresia, male
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| Macroorchidism
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| Hypoplastic male external genitalia
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| Perineal hypospadias
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| Abnormality of the clitoris
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| Clitoromegaly
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| Micropenis
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| Abnormality of female external genitalia
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| Abnormality of vision
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| Visual impairment
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| Abnormality of the labia
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| Hypoplastic labia majora
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| Glaucoma
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| Abnormality of the conjunctiva
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| Tortuosity of conjunctival vessels
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| Aplasia/Hypoplasia of the middle phalanx of the 3rd finger
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| Triangular shaped middle phalanx of the 3rd finger
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| Symphalangism of middle phalanx of 3rd finger
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| Abnormality of the synovia
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| Gastritis
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| Joint hemorrhage
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| Intestinal polyp
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| Premature delivery because of cervical insufficiency or membrane fragility
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| Abnormality of the gallbladder
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| Hypoplastic anemia
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| Thromboembolism
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| Osteolytic defects of the middle phalanx of the 3rd finger
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| Congenital thrombocytopenia
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| Autoimmune neutropenia
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| Anemia
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| Giant platelets
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| Polycythemia
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| Increased hemoglobin
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| Glomerulopathy
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| Urethrocele
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| Rectocele
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| Genital hernia
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| Lumbosacral meningocele
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| Bullet-shaped middle phalanx of the 3rd finger
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| Neoplasm of the nail
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| Lymphocytosis
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| Increase in T cell number
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| Galactorrhea
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| Broad middle phalanx of the 3rd finger
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| Bilateral choanal atresia/stenosis
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| Bacterial endocarditis
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| Paroxysmal tachycardia
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| Conjugated hyperbilirubinemia
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| Generalized aminoaciduria
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| Absent atrioventricular node
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| Hypokalemia
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| Ventricular extrasystoles
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| Endocardial fibrosis
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| Ventricular preexcitation with multiple accessory pathways
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| Hyperbilirubinemia
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| Hyperphosphatemia
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| Nocturnal lagophthalmos
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| Paralytic lagophthalmos
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| EMG
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| Lagopthalmos
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| Single fiber EMG abnormality
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| EMG
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| Cicatricial lagophthalmos
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| Capillary leak
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| Cervical agenesis
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| Cervical insufficiency
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| Delayed patellar ossification
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| Lateral displacement of the femoral head
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| Relatively short spine
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| Stippled chondral calcification
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| Delayed proximal femoral epiphyseal ossification
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| Multiple exostoses
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| Abnormal cartilage morphology
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| Generalized joint laxity
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| Hypoplastic inferior pubic rami
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| Hypoplastic ischiopubic rami
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| Hypoplastic inferior ilia
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| Absent ossification of capital femoral epiphysis
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| Dislocation of the femoral head
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| Hypoplastic iliac body
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| Cerebral germinoma
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| Cerebral granulomatosis
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| Epidural hemorrhage
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| Cerebral ventricular adhesions
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| Hirano bodies
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| Agyrophilic inclusion bodies
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| Cerebral inclusion bodies
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| Lewy bodies
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| Lafora bodies
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| Cerebral hyaline bodies
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| Bilateral choanal atresia
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| Supernumerary ribs
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| Postaxial polysyndactyly of foot
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| Coronal cleft vertebrae
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| Spinal canal stenosis
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