has material basis in germline mutation in AP1S1 syndromic intellectual disability syndromic disease MEDNIK syndrome https://github.com/monarch-initiative/mondo/issues/5588 https://github.com/monarch-initiative/mondo/issues/6878 https://www.malacards.org/card/mednik_syndrome erythrokeratodermia variabilis, Kamouraska type MESH:C563739 MONDO:0012251 MEDNIK 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). mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma Orphanet:171851 erythrokeratodermia variabilis 3 MEDGEN:322893 intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma MEDNIK UMLS:C1836330 intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome OMIM:609313 intellectual disability, enteropathy, deafness, neuropathy, ichthyosis, keratodermia GARD:0017072 DOID:0060483 SCTID:722035007 disorder of copper metabolism erythrokeratoderma hereditary skin disorder