Condition: Impaired pain sensation
rs1557055405
in
ABCD1
gene and
Impaired pain sensation
PMID 9452087
1998 First missense mutation (W679R) in exon 10 of the adrenoleukodystrophy gene in siblings with adrenomyeloneuropathy.
rs398122394
in
ALG13
gene and
Impaired pain sensation
PMID 23934111
2013 De novo mutations in epileptic encephalopathies.
rs1057519389
in
EBF3
gene and
Impaired pain sensation
PMID 28017372
2017 A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.