Cerebellar ataxia, Cayman type

General Information (adopted from Orphanet):

Synonyms, Signs: ATCAY
Cayman ataxia
Number of Symptoms 16
OrphanetNr: 94122
OMIM Id: 601238
ICD-10: G11.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

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

Symptom Information: Sort by abundance 

1
(HPO:0000639) Nystagmus 555 / 7739
2
(HPO:0001263) Global developmental delay 853 / 7739
3
(HPO:0002136) Broad-based gait 30 / 7739
4
(HPO:0002080) Intention tremor 44 / 7739
5
(HPO:0002066) Gait ataxia 327 / 7739
6
(HPO:0001251) Ataxia 413 / 7739
7
(HPO:0001260) Dysarthria 329 / 7739
8
(HPO:0001252) Muscular hypotonia 990 / 7739
9
(HPO:0001324) Muscle weakness 859 / 7739
10
(HPO:0010547) Muscle flaccidity 466 / 7739
11
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
12
(OMIM) Wide-based ataxic gait 1 / 7739
13
(OMIM) Normal retina 2 / 7739
14
(OMIM) Marked psychomotor retardation 1 / 7739
15
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
16
(OMIM) Nonprogressive cerebellar dysfunction 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Autosomal recessive Cayman cerebellar ataxia, identified by Johnson et al. (1978) in a population isolate on Grand Cayman Island, is characterized by marked psychomotor retardation and prominent nonprogressive cerebellar dysfunction including nystagmus, intention tremor, dysarthria, and wide-based ataxic ...
Molecular genetics OMIM In individuals with Cayman ataxia, Bomar et al. (2003) found homozygosity for 2 sequence variants in the ATCAY gene: a ser301-to-arg (S301R) substitution and a splice site mutation in intron 9 (608179.0001). Both mutations completely segregated with the ...