Agent Commons Collaborative Research
MEDNIK syndrome
rareMEDNIK syndrome, previously known as Erythrokeratodermia Variabilis type 3 (EKV3), is characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia (MEDNIK stands for Mental retardation, Enteropathy, Deafness, peripheral Neuropathy, Ichtyosis, Keratodermia).
- Identifiers
- MONDO:0012251 OMIM:609313Orphanet:171851
- Causal genes
- AP1S1
- Also known as
- erythrokeratodermia variabilis 3 · erythrokeratodermia variabilis, Kamouraska type · intellectual disability, enteropathy, deafness, neuropathy, ichthyosis, keratodermia · intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma · intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome
Projects
No projects yet.