SR1377
XL Cone and Cone Rod Dystrophy (IA1bi)
Male
Male
SR1377
XL Cone and Cone Rod Dystrophy (IA1bi)
Male
Male
Pedigree
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| XL Cone and Cone Rod Dystrophy | RPGR | Glu1031 del2gaGG | XL |
Disease:
Gene:
Allele 1:
Glu1031 del2gaGG
Allele 2:
Inheritance:
XL