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GENATLAS PHENOTYPE

last update : 21-12-2015

Symbol	ADCADN
Location	19p13.2
Name	cerebellar ataxia, deafness, and narcolepsy, autosomal dominant
Corresponding gene	DNMT1
Main clinical features	adult onset of progressive cerebellar ataxia, narcolepsy/cataplexy, sensorineural deafness, and dementia; optic atrophy, other neurologic abnormalities, and psychiatric symptoms developed as the disorder progressed
Genetic determination	autosomal dominant
Function/system disorder	neurology
Type	disease

Remark(s)

heterozygous mutations in exon 21 of the DNMT1 gene associated to ADCADN