Intellectual disability – enteropathy – deafness – neuropathy – ichthyosis – keratoderma syndrome (Q50989)
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MEDNIK syndrome, previously known as Erythrokeratodermia Variabilis type 3 (EKV3), is a genetic disorder characterised by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia (MEDNIK stands for Mental retardation, Enteropathy, Deafness, peripheral Neuropathy, Ichthyosis, Keratodermia).
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_153548027 |
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| English | Intellectual disability – enteropathy – deafness – neuropathy – ichthyosis – keratoderma syndrome |
MEDNIK syndrome, previously known as Erythrokeratodermia Variabilis type 3 (EKV3), is a genetic disorder characterised by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia (MEDNIK stands for Mental retardation, Enteropathy, Deafness, peripheral Neuropathy, Ichthyosis, Keratodermia). |
