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MED12
- Fg Syndrome
- Phyllodes Tumor
TTPA
- Familial Isolated Vitamin E Deficiency
FBN2
- Congenital Contractural Arachnodactyly
F12
- Factor Xii Deficiency
FLNA
- Intestinal Neuronal Dysplasia
- Fg Syndrome
- Phyllodes Tumor
FMR1
- Renpenning's Syndrome
- Fg Syndrome
- Fragile X-Associated Tremor/ataxia Syndrome
OPA3
- Costeff Syndrome
SLC12A6
- Andermann Syndrome
TGFBR2
- Uterine Rupture
- Congenital Contractural Arachnodactyly
- Loeys–dietz Syndrome
PQBP1
- Renpenning's Syndrome
TGFBR1
- Uterine Rupture
- Loeys–dietz Syndrome
FAM20A
- Enamel-Renal Syndrome
SLC17A5
- Salla Disease
ABCC9
- Cantú Syndrome
UMOD
- Medullary Cystic Kidney Disease
NGLY1
- Ngly1 Deficiency
RECQL4
- Baller–gerold Syndrome
UBE3B
- Kaufman Oculocerebrofacial Syndrome
RHBDF2
- Howel–evans Syndrome
UBA1
- X-Linked Spinal Muscular Atrophy Type 2