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An autosomal recessive neurologic disorder characterized by early-onset sensorineural deafness and specific brain anomalies on MRI, including hypoplasia of the corpus callosum, enlarged cysterna magna with mild focal cerebellar dysplasia, and nodular heterotopia. Some patients have hydrocephalus. Psychomotor development is normal.




Deafness autosomal recessive 82
Sensorineural deafness with partial agenesis of the corpus callosum and arachnoid cysts




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