Condition: Behr syndrome
rs879255594
in
OPA1
gene and
Behr syndrome
PMID 21636302
2011 Early-onset severe neuromuscular phenotype associated with compound heterozygosity for OPA1 mutations.
PMID 25146916
2015 'Behr syndrome' with OPA1 compound heterozygote mutations.
PMID 25012220
2014 Early-onset Behr syndrome due to compound heterozygous mutations in OPA1.