FBN2
Congenital contractural arachnodactyly (Beals syndrome)
AD
FKBP14
Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss
AR
FLNA
Frontometaphyseal dysplasia, Osteodysplasty Melnick-Needles, Otopalatodigital syndrome type 1, Otopalatodigital syndrome type 2, Terminal osseous dysplasia with pigmentary defects, Periventricular nodular heterotopia 1, Melnick-Needles syndrome, Intestinal pseudoobstruction, neuronal, X-linked/Congenital short bowel syndrome, Cardiac valvular dysplasia, X-linked
XL
FOXE3
Aphakia, congenital primary, Anterior segment mesenchymal dysgenesis, Cataract 34, Aortic aneurysm, familial thoracic
AR/AD
GATA5
Familial atrial fibrillation, Tetralogy of Fallot, Single ventricular septal defect
AD
HCN4
Sick sinus syndrome, Brugada syndrome, Left ventricular non-compaction cardiomyopathy (LVNC)
AD
LOX
Aortic aneurysm, familial thoracic 10
AD
MAT2A*
Complement system
AD/AR
MED12
Ohdo syndrome, Mental retardation, with Marfanoid habitus, FG syndrome, Opitz-Kaveggia syndrome, Lujan-Fryns syndrome
XL
MFAP5
Aortic aneurysm, familial thoracic
AD
MYH11
Aortic aneurysm, familial thoracic
AD/AR
MYLK*
Aortic aneurysm, familial thoracic 7
AD
NOTCH1
Aortic valve disease, Adams-Oliver syndrome
AD
PLOD1
Ehlers-Danlos syndrome
AR
PLOD3
Bone fragility with contractures, arterial rupture, and deafness
AR
PRKG1
Aortic aneurysm, familial thoracic 8
AD
SKI
Shprintzen-Goldberg syndrome
AD
SLC2A10
Arterial tortuosity syndrome
AR
SLC39A13
Spondylodysplastic Ehlers-Danlos syndrome
AR
SMAD2
Loeys-Dietz syndrome, Congenital heart defects, nonsyndromic
AD
SMAD3
Aneurysms-osteoarthritis syndrome, Loeys-Dietz syndrome
AD
SMAD4
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Polyposis, juvenile intestinal, Myhre dysplasia, Hereditary hemorrhagic telangiectasia
AD
SMAD6
Craniosynostosis 7
AD
TGFB2
Loeys-Dietz syndrome
AD
TGFB3
Loeys-Dietz syndrome (Reinhoff syndrome), Arrhythmogenic right ventricular dysplasia
AD
