Case
SR79
Student Mode
Joubert Syndrome (IB5)
Male
Male
Hidden
SR79
Student Mode
Joubert Syndrome (IB5)
Male
Male
Visit at age: 18 years
Fundus Photography - Right - Count Fingers 2'
Exemplar
Fundus Photography - Left - Count Fingers 2'
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Joubert Syndrome | CEP290 | Lys1882 ins1gttA | Arg549Stop CGA>TGA | AR |
Disease:
Gene:
Allele 1:
Lys1882 ins1gttA
Allele 2:
Arg549Stop CGA>TGA
Inheritance:
AR