Intellectual disability – enteropathy – deafness – neuropathy – ichthyosis – keratoderma syndrome (Q50989): Difference between revisions
From determinar.ia.br - Determine suas informações
Created a new Item |
Changed label, description and/or aliases in pt-br, en |
||
| description / pt-br | description / pt-br | ||
A síndrome MEDNIK, anteriormente conhecida como Eritroqueratodermia variável tipo 3 (EKV3), é um transtorno genético caracterizado por déficit intelectual, enteropatia, perda auditiva neurossensorial, neuropatia periférica, ictiose lamelar e eritrodérmica e ceratodermia (MEDNIK correponde a retardo Mental, Enteropatia, "Deafness" (surdez em inglês), Neuropatia periférica, Ictiose, Ceratodermia). | |||
| description / en | description / en | ||
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). | |||
Revision as of 22:05, 13 August 2026
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 |
||
| 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). |
