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MEDNIK syndrome
A rare disorder of copper metabolism characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia.
ORPHA:171851
Classification level: Disorder
- Intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome
- Intellectual disability-enteropathy-hearing loss-peripheral neuropathy-ichthyosis-keratodermia syndrome
Prevalence: <1 / 1 000 000
Inheritance: Autosomal recessive
Age of onset: Antenatal, Infancy, Neonatal
: produced/endorsed by ERN(s)
: produced/endorsed by FSMR(s)
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