Symbol
| MEDNIK
|
Location
| 7q22.1
|
Name
|
mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratodermia |
Corresponding gene
|
AP1S1
|
Main clinical features
|
erythrokeratodermia variabilis, with lamellar and erythrodermic ichthyosis, severe psychomotor retardation, peripheral neuropathy, and sensorineural hearing loss, together with elevated very-long-chain fatty acids and severe congenital diarrhea |
Genetic determination
| autosomal recessive |
Function/system disorder
| dermatology |
| mental retardation |
| digestive tract/gastrointestinal |
| ear |
Type
| disease
|