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| Abnormal origin of the coronary arteries
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| Anomalous origin of coronary artery from the pulmonary artery
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| Complete diaphragmatic absence of pericardium
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| Complete right sided absence of pericardium
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| Partial right sided absence of pericardium
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| Complete left sided absence of pericardium
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| Anomalous origin of left coronary artery from the pulmonary artery
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| Anomalous origin of right coronary artery from the pulmonary artery
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| Abnormality of the 4th toe
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| Abnormality of the 3rd toe
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| Abnormality of the epiphyses of the 2nd toe
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| Abnormality of the 5th toe
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| Aplasia/Hypoplasia of the 2nd toe
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| Abnormality of phalanx of the 2nd toe
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| Flexion contracture of the 2nd toe
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| Deviation of the 2nd toe
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| Abnormality of the epiphyses of the 3rd toe
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| Polydactyly affecting the 2nd toe
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| Frank breech presentation
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| EEG with hyperventilation-induced epileptiform discharges
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| Conductive hearing impairment
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| Sensorineural hearing impairment
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| Fullness of paranasal tissue
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| Macrotia
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| Recurrent otitis media
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| Stenosis of the external auditory canal
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| Progressive sensorineural hearing impairment
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| Bilateral breast hypoplasia
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| Congenital contracture
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| Scleral schwannoma
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| Accelerated bone age after puberty
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| Arthrogryposis multiplex congenita
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| Kyphosis
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| Neoplasm of the breast
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| Myocarditis
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| Fixed facial expression
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| Progeroid facial appearance
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| Biventricular noncompaction cardiomyopathy
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| Hemifacial hypertrophy
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| Prominent nasal septum
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| Mandibulofacial dysostosis
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| Lack of facial subcutaneous fat
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| Loss of facial expression
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| Hypoplasia of right ventricle
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| Extension of hair growth on temples to lateral eyebrow
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| Disturbance of facial expression
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| Protanomaly
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| Capsular cataract
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| Abnormal length of corpus callosum
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| Short corpus callosum
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| Abnormality of the mesentery
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| Symmetric great toe depigmentation
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| Acrokeratosis
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| Episodic supraventricular tachycardia
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| Palpebral fissure narrowing on adduction
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| Lipemia retinalis
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| Night blindness
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| Synophrys
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| Phthisis bulbi
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| Horizontal nystagmus
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| Hypodontia
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| Absent muscle fiber gamma sarcoglycan
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| Reduced muscle fiber gamma sarcoglycan
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| Abnormal muscle fiber beta sarcoglycan
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| Reduced muscle fiber alpha sarcoglycan
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| Absent muscle fiber alpha sarcoglycan
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| Abnormal muscle fiber alpha sarcoglycan
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| Reduced muscle fiber beta sarcoglycan
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| Absent muscle fiber beta sarcoglyan
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| Abnormal muscle fiber delta sarcoglycan
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| Abnormal muscle fiber gamma sarcoglycan
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| Proximal/middle symphalangism of 3rd toe
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| Absent forearm
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| Hyperextensible hand joints
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| Decreased anterioposterior diameter of lumbar vertebral bodies
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| Hypoplasia of the ventral pons
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| Symmetric spinal nerve root neurofibromas
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| Episodic generalized hypotonia
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| Prolonged QRS complex
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| Impaired myocardial contractility
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| Paroxysmal atrial tachycardia
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| Reduced systolic function
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| Impaired distal proprioception
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| Posterior leukoencephalopathy
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| Granulomatous coronary arteritis
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| Situs inversus totalis
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| Lens subluxation
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| Constricted visual fields
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| Corneal dystrophy
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| Retinal arteriolar tortuosity
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| Alternating esotropia
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| Anterior polar cataract
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| Chorioretinal dystrophy
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| Optic neuropathy
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| Choroideremia
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| Abnormal vestibulo-ocular reflex
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| Vitelliform maculopathy
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| Hypoplasia of the iris
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| Progressive night blindness
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| Lacrimal duct stenosis
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