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| Bracket epiphysis of the proximal phalanx of the hallux
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| Focal white matter lesions
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| Clear cell renal cell carcinoma
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| Meningocele
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| Interrupted aortic arch type A
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| Interrupted aortic arch type B
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| Type IV truncus arteriosus
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| Interrupted aortic arch
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| Pulmonary situs inversus
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| Pulmonary situs ambiguus
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| Interrupted aortic arch type C
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| Abnormality of pulmonary situs
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| Pulmonary situs ambiguus with bilateral morphologic right lungs
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| Pulmonary situs ambiguus with bilateral morphologic left lungs
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| Triangular nuclear cataract
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| Cutis gyrata of scalp
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| Postnatal cystic hygroma
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| Fetal cystic hygroma
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| Advanced pneumatization of cranial sinuses
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| Mirror image foot polydactyly
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| Mirror image hand polydactyly
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| Pulverulent Cataract
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| 2-5 finger syndactyly
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| Sutural cataract
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| Opsoclonus
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| Anterior pyramidal cataract
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| Polar cataract
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| Anteverted nares
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| Narrow nose
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| Neck muscle weakness
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| Limited neck range of motion
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| Webbed neck
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| Abnormality of the neck
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| Downbeat nystagmus
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| Increased adipose tissue around the neck
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| Vertical nystagmus
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| Arthralgia
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| Multiple joint contractures
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| Muscle flaccidity
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| Neuropathic arthropathy
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| Abnormality of the femur
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| Hyperplasia of the femoral trochanters
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| Caudal appendage
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| Hip dislocation
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| Halberd-shaped pelvis
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| Skin nodule
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| skin vesicle
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| Papule
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| Skin plaque
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| Kayser-Fleischer ring
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| Dental malocclusion
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| Widely spaced teeth
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| Hypoplasia of teeth
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| Delayed eruption of teeth
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| Grayish enamel
-
| Abnormality of dental enamel
-
| Delayed eruption of primary teeth
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| Reduced muscle fiber calpain-3
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| Absent muscle fiber calpain-3
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| Abnormal muscle fiber lamin A/C
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| Reduced muscle fiber perlecan
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| Sacralization of the fifth lumbar vertebra
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| Reduced muscle fiber lamin A/C
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| Endometriosis
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| Abnormality of the endometrium
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| Impaired ristocetin cofactor assay activity
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| Persistent left superior vena cava
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| Nodular inflammatory vasculitis
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| Aortic arch calcification
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| Cutaneous syndactyly between fingers 2 and 5
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| Cerebral venous thrombosis
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| Lissencephaly
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| Postural hypotension with compensatory tachycardia
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| Capillary hemangiomas
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| Communicating hydrocephalus
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| Pulmonary artery vasoconstriction
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| Bilateral ptosis
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| Vitreous detachment
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| Absent septum pellucidum
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| Dystonia
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| Fatigue
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| Abnormal urine alpha-ketoglutarate concentration
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| Thickening of the lateral border of the scapula
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| Atrophy of alveolar ridges
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| Hypoplasia of first ribs
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| Frequent falls
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| Pontocerebellar atrophy
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| Widely-spaced incisors
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| Mental retardation, in some
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| Difficulty walking
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| Internally rotated shoulders
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| Cerebral hypoplasia
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| Leukoencephalopathy
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| Dagger-shaped pulp calcifications
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| Cerebellar cyst
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| Syndactyly
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| Choroidal sclerosis
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| Impaired horizontal smooth pursuit
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| Saccadic smooth pursuit
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| Septate vagina
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