Case
SR452
Student Mode
Congenital Stationary Synaptic Dysfunction (IA2g)
Female
Female
Hidden
SR452
Student Mode
Congenital Stationary Synaptic Dysfunction (IA2g)
Female
Female
Pedigree
| Age at visit: 33 years |
| Age at visit: 35 years |
| Age at visit: 37 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Congenital Stationary Synaptic Dysfunction | CABP4 | Arg49Stop CGA>TGA | IVS1+1 G>T | AR |
Gene:
Allele 1:
Arg49Stop CGA>TGA
Allele 2:
IVS1+1 G>T
Inheritance:
AR