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Diseases
Genes (711)
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WFS1
Wolfram Syndrome 1
Joint Stiffness
ASL
Argininosuccinic Aciduria
PYGM
Glycogen Storage Disease Type V
Contracture
MLC1
Megalencephalic Leukoencephalopathy With Subcortical Cysts
PMM2
Pmm2 Deficiency
CISD2
Wolfram Syndrome 1
Joint Stiffness
HEPACAM
Megalencephalic Leukoencephalopathy With Subcortical Cysts
LHB
Fertile Eunuch Syndrome
IFIH1
Singleton Merten Syndrome
SMARCD1
Foot Deformity
Hand Deformity
PIGB
Foot Deformity
Hand Deformity
FGFR2
Hallux Varus
Joint Stiffness
Ankylosis
CLCN2
Primary Aldosteronism
Megalencephalic Leukoencephalopathy With Subcortical Cysts
FBN1
Hallux Varus
Joint Stiffness
Genu Recurvatum
Hammer Toe
TRPV4
Foot Deformity
Joint Stiffness
Hammer Toe
Contracture
Coxa Vara
FAM155A
Diverticulitis
RB1
Pinealoblastoma
Trilateral Retinoblastoma
ADAMTSL2
Joint Stiffness
Contracture
ANTXR2
Joint Stiffness
Contracture
COL1A1
Joint Stiffness
Contracture
Coxa Vara