OMIM 260565 | DiseasesDB 33582 | |
PEHO syndrome is a progressive encephalopathy with edema, hypsarrhythmia and optic atrophy. It is a very rare disease, one of the Finnish heritage diseases, and has been reported also in Dutch and Swiss infants.
It has been suggested that it may also be present in Australian and American populations.
Aetiology
A mutation in the ZNHIT3 gene - a nuclear zinc finger protein involved in transcriptional regulation and in small nucleolar ribonucleoprotein particle assembly has been shown to be the cause of this syndrome.
References
PEHO syndrome Wikipedia(Text) CC BY-SA