Condition: Macrotia
rs1060499548 in
ABL1 gene and
Macrotia
PMID 28288113 2017 Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.
rs1562846694 in
ACTL6B;TFR2 gene and
Macrotia
PMID 31134736 2019 Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.