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ARID1B
- Coffin–siris Syndrome
ARID1A
- Coffin–siris Syndrome
TMC6
- Epidermodysplasia Verruciformis
SMARCE1
- Coffin–siris Syndrome
SOX11
- Coffin–siris Syndrome
PRPS1
- Arts Syndrome
SMARCB1
- Coffin–siris Syndrome
- Pinealoblastoma
SMARCA4
- Coffin–siris Syndrome
SMARCA1
- Coffin–siris Syndrome
SMARCA2
- Coffin–siris Syndrome
- Brain Metastasis
TMC8
- Epidermodysplasia Verruciformis
SMARCD1
- Foot Deformity
- Hand Deformity
PIGB
- Foot Deformity
- Hand Deformity
ABCA5
- Hypertrichosis, Congenital Generalized, With Or Without Gingival Hyperplasia
FGFR2
- Hallux Varus
- Joint Stiffness
- Brain Metastasis
- Ankylosis
FBN1
- Hallux Varus
- Joint Stiffness
- Genu Recurvatum
- Hammer Toe
TRPV4
- Coxa Vara
- Foot Deformity
- Joint Stiffness
- Hammer Toe
DPF2
- Coffin–siris Syndrome
ARID2
- Coffin–siris Syndrome
PHF6
- Coffin–siris Syndrome