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RB1
- Pinealoblastoma
- Retinoblastoma
- Trilateral Retinoblastoma
PQBP1
- Ankylosis
- Contracture
- Renpenning's Syndrome
TTPA
- Hammer Toe
- Familial Isolated Vitamin E Deficiency
IFIH1
- Singleton Merten Syndrome
SMARCD1
- Foot Deformity
- Hand Deformity
PIGB
- Foot Deformity
- Hand Deformity
FGFR2
- Hallux Varus
- Joint Stiffness
- Ankylosis
- Retinoblastoma
TRPV4
- Foot Deformity
- Joint Stiffness
- Hammer Toe
- Contracture
- Coxa Vara
- Unequal Leg Length
BCOR
- Cubitus Valgus
- Retinoblastoma
- Hammer Toe
FBN1
- Hallux Varus
- Joint Stiffness
- Genu Recurvatum
- Hammer Toe
COL2A1
- Foot Deformity
- Joint Stiffness
- Contracture
- Coxa Vara
- Unequal Leg Length
COL1A1
- Joint Stiffness
- Contracture
- Coxa Vara
ADAMTSL2
- Joint Stiffness
- Contracture
ANTXR2
- Joint Stiffness
- Contracture
PTEN
- Joint Stiffness
- Genu Recurvatum
- Retinoblastoma
- Unequal Leg Length
LMNA
- Foot Deformity
- Joint Stiffness
- Ankylosis
- Retinoblastoma
- Contracture
MDM4
- Retinoblastoma
PRG4
- Contracture
- Coxa Vara
KRAS
- Cubitus Valgus
- Genu Recurvatum
- Retinoblastoma
- Unequal Leg Length
DDX58
- Singleton Merten Syndrome