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Diseases
Genes (794)
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FMR1
Fragile X-Associated Tremor/ataxia Syndrome
DLL3
Spondylocostal Dysostosis 6, Autosomal Recessive
GRXCR1
Deafness, Autosomal Recessive 25
SMARCD1
Foot Deformity
Hand Deformity
PIGB
Foot Deformity
Hand Deformity
NEU1
Glycoproteinosis
MCOLN1
Genu Recurvatum
Glycoproteinosis
FGFR2
Hallux Varus
Joint Stiffness
Ankylosis
TBX6
Spondylocostal Dysostosis 6, Autosomal Recessive
RIPPLY2
Spondylocostal Dysostosis 6, Autosomal Recessive
TEX11
Spermatogenic Failure, X-Linked, 2
HES7
Spondylocostal Dysostosis 6, Autosomal Recessive
MESP2
Spondylocostal Dysostosis 6, Autosomal Recessive
FBN1
Hallux Varus
Joint Stiffness
Genu Recurvatum
Hammer Toe
GNAS
Ankylosis
Endocrine Disease
TRPV4
Foot Deformity
Joint Stiffness
Hammer Toe
Contracture
Coxa Vara
LFNG
Spondylocostal Dysostosis 6, Autosomal Recessive
RB1
Pinealoblastoma
Trilateral Retinoblastoma
COL1A1
Joint Stiffness
Contracture
Coxa Vara
ADAMTSL2
Joint Stiffness
Contracture