Kohlschutter-Tonz Syndrome

About the Disease
Kohlschutter-Tonz Syndrome, also known as amelocerebrohypohidrotic syndrome, is related to developmental and epileptic encephalopathy 25 and alacrima, achalasia, and mental retardation syndrome, and has symptoms including ataxia, muscle spasticity and seizures. An important gene associated with Kohlschutter-Tonz Syndrome is ROGDI (Rogdi Atypical Leucine Zipper). The drugs Mirabegron and Ketamine have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and bone marrow, and related phenotypes are spasticity and eeg abnormality

Common Targets
ROGDI | SLC13A5

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