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| Localized skin lesion
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| Generalized abnormality of skin
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| Arterial intimal fibrosis
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| Severe receptive language delay
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| Moderate receptive language delay
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| Mild receptive language delay
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| Carotid artery dissection
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| Internal carotid artery dissection
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| Single lineage myelodysplasia
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| Hemothorax
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| Foveoschisis
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| Hypotriglyceridemia
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| Anhedonia
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| Decreased corneal sensation
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| Hemophagocytosis
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| Subcortical cerebral atrophy
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| Axenfeld anomaly
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| Increased nuchal translucency
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| Abnormality of the umbilical cord
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| Pulmonary valve atresia
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| Aortic valve atresia
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| Acromelia
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| Aseptic necrosis
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| Osteochondrosis dissecans
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| Morbus Koehler
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| Morbus Kienboeck
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| Beta-EEG
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| Alpha-EEG
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| Hypokinetic seizures
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| Complex febrile seizures
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| Simple febrile seizures
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| Myoclonic atonic seizures
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| EEG with 4-5/second background activity
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| EEG with constitutional variants
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| Versive seizures
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| Hyperkinetic seizures
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| Scheuermann-like vertebral changes
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| Hypoplastic vertebral bodies
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| Lower thoracic interpediculate narrowness
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| Prominent protruding coccyx
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| Intestinal obstruction
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| Hypoplastic sacral vertebrae
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| Irregular sclerotic endplates
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| Poorly ossified cervical vertebrae
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| Curved proximal phalanx of the hallux
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| Osteolytic defects of the proximal phalanx of the hallux
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| Osteolytic defects of the distal phalanx of the hallux
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| Patchy sclerosis of the distal phalanx of the hallux
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| Symphalangism affecting the distal phalanx of the hallux
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| Triangular shaped distal phalanx of the hallux
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| Duplication of the distal phalanx of the hallux
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| Aplasia/Hypoplasia of the proximal phalanx of the hallux
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| Broad proximal phalanx of the hallux
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| Bullet-shaped proximal phalanx of the hallux
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| Abnormal involuntary eye movements
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| Skewed maternal X inactivation
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| Reduced aldolase level
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| Infra-aortic superior vena cava
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| Non-restrictive ventricular septal defect
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| AV nodal tachycardia
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| Abnormal coronary artery course
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| Subarterial ventricular septal defect
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| Single ventricle of indeterminate morphology
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| Restrictive ventricular septal defect
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| Perimembranous ventricular septal defect
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| Hemosiderinuria
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| Supraventricular tachycardia with a concealed accessory connection
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| Supraventricular tachycardia with an accessory connection mediated pathway
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| Onychauxis
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| Agenesis of maxillary incisor
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| Cephalohematoma
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| Pointed helix
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| Axillary epidermoid cyst
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| Microvesicular hepatic steatosis
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| X-linked inheritance
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| Halitosis
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| Decreased liver function
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| Micronodular cirrhosis
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| Enteroviral hepatitis
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| X-linked recessive inheritance
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| Abnormality of the epiphysis of the 4th metacarpal
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| Pseudoepiphysis of the 4th metacarpal
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| Abnormality of the epiphysis of the 5th metacarpal
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| Pseudoepiphysis of the 5th metacarpal
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| Abnormality of the epiphysis of the 2nd metacarpal
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| Pseudoepiphysis of the 2nd metacarpal
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| Abnormality of the epiphysis of the 3rd metacarpal
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| Pseudoepiphysis of the 3rd metacarpal
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| Absent epiphyses of the phalanges of the hand
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| Bracket epiphyses of the phalanges of the hand
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| Abnormality of the clivus
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| Vertical clivus
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| Acute respiratory tract infection
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| Acute infectious pneumonia
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| Increased urinary thiosulfate
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| Retinal detachment
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| Palmar telangiectasia
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| Uterine rupture
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| Lens coloboma
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| Self-injurious behavior
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