Name
Mednik Syndrome
Synonmys
ERYTHROKERATODERMIA VARIABILIS 3; EKV3 ,
ERYTHROKERATODERMIA VARIABILIS, KAMOURASKA TYPE ,
IMPAIRED INTELLECTUAL DEVELOPMENT, ENTEROPATHY, DEAFNESS, PERIPHERAL NEUROPATHY, ICHTHYOSIS, AND KERATODERMA ,
MENTAL RETARDATION, ENTEROPATHY, DEAFNESS, PERIPHERAL NEUROPATHY, ICHTHYOSIS, AND KERATODERMA
Classification
developmental,
genetic,
metabolism,
neurological,
otorhinolaryngological,
skin
Associated Genes
AP1S1
(Withdrawn symbols:
AP19,
CLAPS1,
EKV3,
SIGMA1A,
WUGSC:H_DJ0747G18.2
)
Mouse Orthologs
Source
OMIM:609313 (names, synonyms, disease associated genes),
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)