MEDNIK syndrome (Q22030615)
(Redirected from Q28135894)
A syndrome characterized by mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma. It is cause by homozygous mutation in the AP1S1 gene on chromosome 7q22.
- erythrokeratodermia variabilis 3
- erythrokeratodermia variabilis, Kamouraska type
- mental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratodermia
- MENTAL RETARDATION, ENTEROPATHY, DEAFNESS, PERIPHERAL NEUROPATHY, ICHTHYOSIS, AND KERATODERMA; MEDNIK
- MENTAL RETARDATION, ENTEROPATHY, DEAFNESS, PERIPHERAL NEUROPATHY, ICHTHYOSIS, AND KERATODERMA
- Intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome
- MEDNIK
- MEDNIK Syndrome
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | MEDNIK syndrome |
A syndrome characterized by mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma. It is cause by homozygous mutation in the AP1S1 gene on chromosome 7q22. |
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Wikipedia(2 entries)
- dewiki MEDNIK-Syndrom
- enwiki MEDNIK syndrome