Ataxia - tapetoretinal degeneration

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 12
OrphanetNr: 1178
OMIM Id: 272600
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
Heterogeneous
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Rare hereditary ataxia
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000547) Tapetoretinal degeneration 11 / 7739
2
 (HPO:0000510) Rod-cone dystrophy Occasional [Orphanet] 266 / 7739
3
 (HPO:0000639) Nystagmus Occasional [Orphanet] 555 / 7739
4
 (HPO:0000572) Visual loss Occasional [Orphanet] 272 / 7739
5
 (HPO:0002066) Gait ataxia Occasional [Orphanet] 327 / 7739
6
 (HPO:0001288) Gait disturbance Occasional [Orphanet] 318 / 7739
7
 (HPO:0001251) Ataxia 413 / 7739
8
 (HPO:0001252) Muscular hypotonia Occasional [Orphanet] 990 / 7739
9
 (HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739
10
 (HPO:0001425) Heterogeneous 132 / 7739
11
 (HPO:0002334) Abnormality of the cerebellar vermis Occasional [Orphanet] 137 / 7739
12
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: