STRA6
Microphthalmia, syndromic, Microphthalmia, isolated, with coloboma
AR
TAB2
Congenital heart defects, multiple types, 2
AD
TBX1
Conotruncal anomaly face syndrome
AD
TBX20*
Atrial septal defect 4
AD
TBX5
Holt-Oram syndrome
AD
TFAP2B
Patent ductus arteriosus, nonsyndromic, Char syndrome
AD
TGDS
Catel-Manzke syndrome
AR
TLL1
Atrial septal defect
AD
TMEM94
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH)
AR
TWIST1
Saethre-Chotzen syndrome, Robinow-Sorauf syndrome, Craniosynostosis
AD
ZEB2*
Mowat-Wilson syndrome
AD
ZFPM2
46,XY sex reversal, Diaphragmatic hernia 3, Tetralogy of Fallot
AD/AR
ZIC3
Heterotaxy, visceral, VACTERL association, Congenital heart defects, nonsyndromic
XL
ABCC6*
Pseudoxanthoma elasticum
AR
ADAMTS2#
Ehlers-Danlos syndrome
AR
ADAMTSL2#*
Geleophysic dysplasia 3
AR
AEBP1
AR
ALDH18A1
Spastic paraplegia, Cutis laxa
AD/AR
ATP6V0A2
Cutis laxa, Wrinkly skin syndrome
AR
ATP6V1A
Cutis laxa, autosomal recessive, type IID, Epileptic encephalopathy
AD/AR
ATP6V1E1
Cutis laxa, autosomal recessive, type IIC
ATP7A
Menkes disease, Occipital horn syndrome, Spinal muscular atrophy, distal, X-linked 3
XL
B3GALT6#
Spondyloepimetaphyseal dysplasia with joint laxity, Ehlers-Danlos syndrome
AR
B4GALT7
Ehlers-Danlos syndrome, progeroid form
AR
BGN
Spondyloepimetaphyseal dysplasia, X-linked, Meester-Loeys syndrome
XL
