Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome

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Synonyms: Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome

A rare genetic disease characterized by microcephaly global developmental delay intellectual disability abnormal muscle tone and sensorineural hearing impairment. Additional variable manifestations include epilepsy cortical visual impairment gastrointestinal disturbances growth restriction scoliosis as well as immunodeficiency and thrombocytopenia. Brain imaging may show cerebral atrophy thin corpus callosum and hypomyelination.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version May 2024

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