Condition: PEHO syndrome


rs387906799 in KIF1A gene and PEHO syndrome PMID 26486474 2016 De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.

rs148890852 in LOC105371749;ZNHIT3 gene and PEHO syndrome PMID 28335020 2017 By combining homozygosity mapping in Finnish families with Sanger sequencing of positional candidate genes and with exome sequencing a homozygous missense substitution of leucine for serine at codon 31 in ZNHIT3 was identified as the primary cause of PEHO syndrome.