MEDNIK syndrome

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MEDNIK syndrome

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: // Data version September 2023.

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MEDNIK syndrome?

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Advocacy Organizations

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

Clinical Trials

For a list of clinical trials in this disease area, please click here.