Spastic ataxia - corneal dystrophy

General Information (adopted from Orphanet):

Synonyms, Signs: Spastic ataxia - ocular anomalies
Mousa-Al Din-Al Nassar syndrome
bedouin spastic ataxia syndrome
Number of Symptoms 16
OrphanetNr: 2572
OMIM Id: 271320
ICD-10: G11.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal recessive spastic ataxia
 -Rare genetic disease
 -Rare neurologic disease
Syndromic corneal dystrophy
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000545) Myopia Very frequent [Orphanet] 286 / 7739
2
 (HPO:0000519) Congenital cataract 73 / 7739
3
 (HPO:0001131) Corneal dystrophy Very frequent [Orphanet] 56 / 7739
4
 (HPO:0000518) Cataract Very frequent [Orphanet] 454 / 7739
5
 (HPO:0001276) Hypertonia Very frequent [Orphanet] 317 / 7739
6
 (HPO:0004374) Hemiplegia/hemiparesis Frequent [Orphanet] 158 / 7739
7
 (HPO:0002066) Gait ataxia Very frequent [Orphanet] 327 / 7739
8
 (HPO:0002497) Spastic ataxia 13 / 7739
9
 (HPO:0001288) Gait disturbance Frequent [Orphanet] 318 / 7739
10
 (HPO:0010701) Abnormal immunoglobulin level Frequent [Orphanet] 49 / 7739
11
 (HPO:0003457) EMG abnormality Frequent [Orphanet] 78 / 7739
12
 (HPO:0002334) Abnormality of the cerebellar vermis Frequent [Orphanet] 137 / 7739
13
 (HPO:0002503) Spinocerebellar tract degeneration 8 / 7739
14
 (HPO:0012795) Abnormality of the optic disc Frequent [Orphanet] 187 / 7739
15
 (OMIM) Nonaxial myopia 1 / 7739
16
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: