rs1562846694 in
ACTL6B;TFR2 gene and
Bulbous nose
PMID 31134736 2019 Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.
rs1555639076 in
BPTF gene and
Bulbous nose
PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
rs1561875767 in
CUL7;KLC4 gene and
Bulbous nose
PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.
rs786200952 in
KAT6A gene and
Bulbous nose
PMID 25728777 2015 Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.
rs1057516033 in
KAT6B gene and
Bulbous nose
PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.