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8 Result(s)

ORPHA:90635   (Subtype of disorder)   Autosomal dominant non-syndromic sensorineural deafness type DFNA

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ORPHA:90636   (Subtype of disorder)   Autosomal recessive non-syndromic sensorineural deafness type DFNB

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ORPHA:79500   (Disorder)   DOORS syndrome

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ORPHA:352582   (Disorder)   Familial infantile myoclonic epilepsy

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ORPHA:352587   (Disorder)   Focal epilepsy-intellectual disability-cerebro-cerebellar malformation

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ORPHA:293181   (Disorder)   Malignant migrating focal seizures of infancy

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ORPHA:352596   (Disorder)   Progressive myoclonic epilepsy with dystonia

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ORPHA:163727   (Disorder)   Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome

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