MED12
Ohdo syndrome, Mental retardation, with Marfanoid habitus, FG syndrome, Opitz-Kaveggia syndrome, Lujan-Fryns syndrome
XL
MAT2A*
Complement system
AD/AR
LOX
Aortic aneurysm, familial thoracic 10
AD
HCN4
Sick sinus syndrome, Brugada syndrome, Left ventricular non-compaction cardiomyopathy (LVNC)
AD
GATA5
Familial atrial fibrillation, Tetralogy of Fallot, Single ventricular septal defect
AD
FOXE3
Aphakia, congenital primary, Anterior segment mesenchymal dysgenesis, Cataract 34, Aortic aneurysm, familial thoracic
AR/AD
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
FKBP14
Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss
AR
FBN2
Congenital contractural arachnodactyly (Beals syndrome)
AD
FBN1
MASS syndrome, Marfan syndrome, Acromicric dysplasia, Geleophysic dysplasia 3
AD
FBLN5
Cutis laxa, Macular degeneration, age-related
AD/AR
ENPP1
Arterial calcification, Hypophosphatemic rickets
AD/AR
ELN
Cutis laxa, Supravalvular aortic stenosis
AD
EFEMP2
Cutis laxa
AR
COLGALT1
Brain small vessel disease
AR
COL5A2
Ehlers-Danlos syndrome
AD
COL5A1
Ehlers-Danlos syndrome
AD
COL4A5
Alport syndrome
XL
COL3A1
Ehlers-Danlos syndrome
AD
COL2A1
Avascular necrosis of femoral head, Rhegmatogenous retinal detachment, Epiphyseal dysplasia, with myopia and deafness, Czech dysplasia, Achondrogenesis type 2, Platyspondylic dysplasia Torrance type, Hypochondrogenesis, Spondyloepiphyseal dysplasia congenital (SEDC), Spondyloepimetaphyseal dysplasia (SEMD) Strudwick type, Kniest dysplasia, Spondyloperipheral dysplasia, Mild SED with premature onset arthrosis, SED with metatarsal shortening, Stickler syndrome type 1
AD
COL1A2
Ehlers-Danlos syndrome, cardiac valvular form, Osteogenesis imperfecta type 1, Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4
AD/AR
COL1A1
Ehlers-Danlos syndrome, Caffey disease, Osteogenesis imperfecta type 1, Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4
AD
CBS
Homocystinuria due to cystathionine beta-synthase deficiency
AR
BGN
Spondyloepimetaphyseal dysplasia, X-linked, Meester-Loeys syndrome
XL
B3GAT3#*
Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects
AR
