Case
SR44
Student Mode
Congenital Stationary Synaptic Dysfunction (IA2g)
Male
Male
Hidden
SR44
Student Mode
Congenital Stationary Synaptic Dysfunction (IA2g)
Male
Male
Highlighted Images
| Age at visit: 13 years | OD | OS |
|---|---|
Pedigree
| Age at visit: 10 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| Age at visit: 13 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Congenital Stationary Synaptic Dysfunction | CACNA1F | Pro1055 ins1cggC | XL |
Gene:
Allele 1:
Pro1055 ins1cggC
Allele 2:
Inheritance:
XL