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Diseases
Genes (938)
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POLG
Hand Deformity
Balo Concentric Sclerosis
F12
Factor Xii Deficiency
ACADVL
Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
PTEN
Thrombophlebitis
Joint Stiffness
Adenoid Cystic Carcinoma
Unequal Leg Length
Genu Recurvatum
Protein Losing Enteropathy
UBE3B
Kaufman Oculocerebrofacial Syndrome
SMARCD1
Foot Deformity
Hand Deformity
PIGB
Foot Deformity
Hand Deformity
BCOR
Adenoid Cystic Carcinoma
Cubitus Valgus
Hammer Toe
GLRB
Joint Stiffness
Hyperekplexia
SLC6A5
Joint Stiffness
Hyperekplexia
TP53
Adenoid Cystic Carcinoma
Esthesioneuroblastoma
CD55
Protein Losing Enteropathy
TRPV4
Foot Deformity
Joint Stiffness
Unequal Leg Length
Hammer Toe
Contracture
Coxa Vara
HRAS
Adenoid Cystic Carcinoma
Genu Recurvatum
FGFR2
Hallux Varus
Joint Stiffness
Ankylosis
GLRA1
Joint Stiffness
Hyperekplexia
NOTCH1
Adenoid Cystic Carcinoma
PIK3CA
Adenoid Cystic Carcinoma
FBN1
Hallux Varus
Joint Stiffness
Genu Recurvatum
Hammer Toe
COL2A1
Foot Deformity
Joint Stiffness
Unequal Leg Length
Contracture
Coxa Vara