MEDNIK syndrome

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Synonyms: Intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome | Intellectual disability-enteropathy-hearing loss-peripheral neuropathy-ichthyosis-keratodermia syndrome

A rare disorder of copper metabolism characterized by intellectual deficit enteropathy sensorineural hearing loss peripheral neuropathy lamellar and erythrodermic ichthyosis and keratodermia.

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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MEDNIK syndrome?

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