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Diseases
Genes (732)
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COL2A1
Collagen, Type Ii, Alpha-1
Foot Deformity
Joint Stiffness
Contracture
Coxa Vara
ATRX
Joint Stiffness
Alpha-Thalassemia Mental Retardation Syndrome
POLG
Hand Deformity
Balo Concentric Sclerosis
UBA1
Joint Stiffness
X-Linked Spinal Muscular Atrophy Type 2
PRPS1
Arts Syndrome
PCDH19
Epilepsy-Intellectual Disability In Females
SMARCD1
Foot Deformity
Hand Deformity
PIGB
Foot Deformity
Hand Deformity
ISCU
Myopathy With Deficiency Of Iron-Sulfur Cluster Assembly Enzyme
GLRB
Joint Stiffness
Hyperekplexia
SLC6A5
Joint Stiffness
Hyperekplexia
PAH
Phenylketonuria
FGFR2
Hallux Varus
Joint Stiffness
Ankylosis
GLRA1
Joint Stiffness
Hyperekplexia
SHH
Cyclopia
FBN1
Hallux Varus
Joint Stiffness
Genu Recurvatum
Hammer Toe
TRPV4
Foot Deformity
Joint Stiffness
Hammer Toe
Contracture
Coxa Vara
GPHN
Joint Stiffness
Hyperekplexia
ATAD1
Joint Stiffness
Hyperekplexia
ADAMTSL2
Joint Stiffness
Contracture