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Diseases
Genes (688)
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CACNA1A
Childhood Absence Epilepsy
Epilepsy, Idiopathic Generalized
TWNK
Infantile-Onset Spinocerebellar Ataxia
ACTG2
Joint Stiffness
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
DBH
Dopamine Beta Hydroxylase Deficiency
IFIH1
Singleton Merten Syndrome
CACNA1H
Childhood Absence Epilepsy
Epilepsy, Childhood Absence, Susceptibility To, 6
Epilepsy, Idiopathic Generalized
SMARCD1
Foot Deformity
Hand Deformity
PIGB
Foot Deformity
Hand Deformity
KRT14
Dermatopathia Pigmentosa Reticularis
GABRB3
Childhood Absence Epilepsy
Epilepsy, Idiopathic Generalized
CACNA2D2
Childhood Absence Epilepsy
MYH11
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
FGFR2
Hallux Varus
Joint Stiffness
Ankylosis
SLC2A1
Childhood Absence Epilepsy
Epilepsy, Idiopathic Generalized
MYLK
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
JRK
Childhood Absence Epilepsy
Epilepsy, Idiopathic Generalized
FBN1
Hallux Varus
Joint Stiffness
Genu Recurvatum
Hammer Toe
EFHC1
Childhood Absence Epilepsy
Epilepsy, Idiopathic Generalized
TRPV4
Foot Deformity
Joint Stiffness
Hammer Toe
Contracture
Coxa Vara
GABRD
Joint Stiffness
Childhood Absence Epilepsy
Epilepsy, Idiopathic Generalized