Autosomal recessive cerebellar ataxia - psychomotor retardation

General Information (adopted from Orphanet):

Synonyms, Signs: SCAR11
Autosomal recessive spinocerebellar ataxia type 11
Number of Symptoms 11
OrphanetNr: 284271
OMIM Id: 614229
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: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal recessive syndromic cerebellar ataxia
 -Rare eye disease
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0007772) Impaired smooth pursuit 21 / 7739
2
 (HPO:0000639) Nystagmus rare [HPO:skoehler] 555 / 7739
3
 (HPO:0001251) Ataxia 413 / 7739
4
 (HPO:0002015) Dysphagia rare [HPO:skoehler] 301 / 7739
5
 (HPO:0001260) Dysarthria 329 / 7739
6
 (HPO:0002078) Truncal ataxia 41 / 7739
7
 (HPO:0002070) Limb ataxia 41 / 7739
8
 (HPO:0003677) Slow progression 134 / 7739
9
 (HPO:0001272) Cerebellar atrophy 197 / 7739
10
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
11
 (OMIM) Psychomotor retardation, mild to moderate 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Doi et al. (2011) reported 2 Japanese brothers, born of consanguineous parents, with spinocerebellar ataxia associated with psychomotor retardation. One patient had mild psychomotor retardation since childhood, graduated from a normal junior high school, and held a job ...
Molecular genetics OMIM By homozygosity mapping followed by whole-exome sequencing in 2 Japanese brothers with autosomal recessive SCA and mild to moderate psychomotor retardation, Doi et al. (2011) identified a homozygous mutation in the SYT14 gene (G484D; 610949.0001).