Disease #01139 (MEDNIK;EKV3 (mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma (MEDNIK, erythrokeratodermia variabilis, type 3 (EKV-3))), OMIM:609313)

Official abbreviation MEDNIK;EKV3
Name mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma (MEDNIK, erythrokeratodermia variabilis, type 3 (EKV-3))
OMIM ID 609313
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease -
Phenotype entries for this disease -
Associated with 1 gene AP1S1
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)

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