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MEDNIK syndrome

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).

Also known as: erythrokeratodermia variabilis 3, erythrokeratodermia variabilis, Kamouraska type, intellectual disability, enteropathy, deafness, neuropathy, ichthyosis, keratodermia, intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome, MEDNIK, intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma, mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma

31 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Metabolic disease (215) Hereditary disease (172) Skin disorder (123) Inborn errors of metabolism (42) Syndromic disease (24) Human disease (14) Hereditary skin disorder (5) Disease of genetic or genomic mechanism (2) Disease by body system or component (0)
Trials to join now! 17 Not yet recruiting 4 Not yet finished but already full! 4 Completed 6
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