Case
SR2705
Student Mode
Neuropathy, Ataxia and Retinitis Pigmentosa (IB7c)
Male
Male
Hidden
SR2705
Student Mode
Neuropathy, Ataxia and Retinitis Pigmentosa (IB7c)
Male
Male
History
This 27 year old man did not learn to walk until he was 18 months of age and his gate has never been normal. He began to have trouble seeing in dim light as teenager. He was felt to have developmental delay as child and has always had difficulty with fine motor skills. His speech has an abnormal cadence.
Pedigree
| Age at visit: 27 years |
| Age at visit: 29 years |
| Age at visit: 31 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Neuropathy, Ataxia and Retinitis Pigmentosa | MT-ATP6 | 8993 T>G | MT |
Gene:
Allele 1:
8993 T>G
Allele 2:
Inheritance:
MT