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| Bullet-shaped hallux phalanx
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| Curved hallux phalanx
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| Duplication of phalanx of hallux
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| Aplasia/hypoplasia of the 1st metatarsal
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| Symphalangism affecting the phalanges of the hallux
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| Triangular shaped phalanges of the hallux
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| EEG with focal sharp slow waves
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| EEG with series of focal spikes
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| EEG with focal spike waves
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| EEG with focal sharp waves
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| Unilateral multifocal epileptiform discharges
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| Uni- and bilateral multifocal epileptiform discharges
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| EEG with focal spikes
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| Polymorphic focal epileptiform discharges
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| Mesoaxial polydactyly
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| EEG with generalized sharp slow waves
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| EEG with generalized epileptiform discharges
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| Unilateral hypoplasia of pectoralis major muscle
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| Retinal perforation
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| Pineal gland calcification
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| Supraventricular tachycardia with a concealed accessory pathway on the right free wall
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| Aplasia/Hypoplasia of the macula
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| Supraventricular tachycardia with a concealed accessory pathway on the septum
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| Permanent junctional reciprocating tachycardia
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| Supraventricular tachycardia with a concealed accessory pathway on the left free wall
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| Supraventricular tachycardia with a manifest accessory pathway on the left free wall
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| Supraventricular tachycardia with a manifest accessory pathway on the right free wall
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| Abnormality of pineal physiology
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| Supraventricular tachycardia with a manifest accessory pathway
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| Abnormal pineal melatonin secretion
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| Cerebellar hemorrhage
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| Nodular regenerative hyperplasia of liver
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| Flat occiput
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| Craniofacial osteosclerosis
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| Facial hyperostosis
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| Frontal bone hypoplasia
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| Intestinal lymphoid nodular hyperplasia
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| Craniofacial disproportion
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| Calcification of falx cerebri
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| Elongated sella turcica
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| Absent epiphyses of the distal phalanges of the hand
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| Epispadias
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| Anophthalmia
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| Progressive visual loss
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| Aplasia of the proximal phalanges of the hand
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| Abnormality of the epiphyses of the distal phalanx of finger
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| Short proximal phalanx of finger
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| Alacrima
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| Subcapsular cataract
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| Proptosis
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| Ambiguous genitalia, male
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| Hydrocele testis
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| Long eyelashes
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| Conjunctival telangiectasia
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| Abnormality of the iris
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| Autoimmunity
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| Dysgammaglobulinemia
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| Abnormal delayed hypersensitivity skin test
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| Cutaneous anergy
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| Cubitus valgus
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| Secretory diarrhea
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| Intrahepatic bile duct cysts
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| Retroperitoneal fibrosis
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| Anomalous splenoportal venous system
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| Helicobacter pylori infection
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| Spontaneous esophageal perforation
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| Pancreatic pseudocyst
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| Gastric hypertrophy
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| Acute hepatitis
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| Malabsorption of Vitamin B12
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| Gastric diverticulum
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| Hypersensibility of scalp
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| Sepsis
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| Long fingers
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| Ungual fibroma
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| Precocious menopause
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| Malposition of the stomach
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| Abnormality of the periungual region
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| Aplasia/Hypoplasia of the pancreas
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| Pancreatic aplasia
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| Olfactory esthesioneuroblastoma
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| Absent radius
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| Nervous tissue neoplasm
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| Neuroectodermal neoplasm
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| Craniopharyngioma
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| Neuroepithelial neoplasm
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| Neurocytoma
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| Constricted radius
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| Ependymoblastoma
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| Peripheral primitive neuroectodermal neoplasm
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| Type 1 fibers relatively smaller than type 2 fibers
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| Sideroblastic anemia
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| Acanthocytosis
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| Renal artery stenosis
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| Reticulocytosis
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| Vacuolated lymphocytes
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| Reduced factor XI activity
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| Abnormality of coagulation
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| Sinus venosus atrial septal defect
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| Mitral atresia
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