Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit

General Information (adopted from Orphanet):

Synonyms, Signs: SPINOCEREBELLAR ATAXIA WITH MENTAL RETARDATION AND EPILEPSY
SCAR12
Autosomal recessive spinocerebellar ataxia-12
Number of Symptoms 17
OrphanetNr: 284282
OMIM Id: 614322
ICD-10: G11.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000252) Microcephaly 832 / 7739
2
 (HPO:0000640) Gaze-evoked nystagmus 27 / 7739
3
 (HPO:0000546) Retinal degeneration rare [HPO:skoehler] 61 / 7739
4
 (HPO:0000648) Optic atrophy rare [HPO:skoehler] 238 / 7739
5
 (HPO:0001249) Intellectual disability 1089 / 7739
6
 (HPO:0001250) Seizures 1245 / 7739
7
 (HPO:0001260) Dysarthria 329 / 7739
8
 (HPO:0002066) Gait ataxia 327 / 7739
9
 (HPO:0003487) Babinski sign rare [HPO:skoehler] 179 / 7739
10
 (HPO:0002070) Limb ataxia 41 / 7739
11
 (HPO:0001263) Global developmental delay 853 / 7739
12
 (HPO:0001257) Spasticity rare [HPO:skoehler] 251 / 7739
13
 (HPO:0001251) Ataxia 413 / 7739
14
 (HPO:0001265) Hyporeflexia 208 / 7739
15
 (HPO:0001510) Growth delay rare [HPO:skoehler] 295 / 7739
16
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
17
 (HPO:0001272) Cerebellar atrophy 197 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Gribaa et al. (2007) reported 4 sibs, born of consanguineous Saudi Arabian parents, with early-childhood onset of cerebellar ataxia associated with generalized seizures and delayed psychomotor development. Seizure onset occurred between 9 and 12 months. All showed gait ...