Condition: Hemangioma
rs779027563
in
CNTNAP1
gene and
Hemangioma
PMID 27668699
2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.
rs786200952
in
KAT6A
gene and
Hemangioma
PMID 25728777
2015 Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.