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Diseases
Genes (709)
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OPA3
Costeff Syndrome
ABCC9
Hand Deformity
Cantú Syndrome
SCN2A
Generalized Epilepsy With Febrile Seizures Plus, Type 8
Epileptic Encephalopathy, Early Infantile, 40
SLC29A3
Histiocytosis-Lymphadenopathy Plus Syndrome
Contracture
ATP1A3
Autosomal Dominant Optic Atrophy Plus Syndrome
CTC1
Coats Plus Syndrome
HSPA9
Even-Plus Syndrome
B3GLCT
Peters Plus Syndrome
SCN1B
Generalized Epilepsy With Febrile Seizures Plus, Type 8
KCNJ8
Cantú Syndrome
SMARCD1
Foot Deformity
Hand Deformity
PIGB
Foot Deformity
Hand Deformity
SCN1A
Generalized Epilepsy With Febrile Seizures Plus, Type 8
Epileptic Encephalopathy, Early Infantile, 40
STN1
Coats Plus Syndrome
FGFR2
Hallux Varus
Joint Stiffness
Ankylosis
CDKL5
Epileptic Encephalopathy, Early Infantile, 40
ARX
Epileptic Encephalopathy, Early Infantile, 40
STXBP1
Epileptic Encephalopathy, Early Infantile, 40
TSC2
Epileptic Encephalopathy, Early Infantile, 40
SPTAN1
Epileptic Encephalopathy, Early Infantile, 40