Case
SR79
Student Mode
Joubert Syndrome (IB5)
Male
Male
Hidden
SR79
Student Mode
Joubert Syndrome (IB5)
Male
Male
Highlighted Images
| Age at visit: 18 years | OD | OS |
|---|---|
History
This 18 year old man has been night blind his entire life. He has an unusual cadence to his speech (scanning speech). He had nystagmus and ocular motor apraxia as a young child. He also had a slightly ataxic gate as a young child, he did not walk until 4 years of age.
Pedigree
| Age at visit: 18 years |
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