SPINOCEREBELLAR ATAXIA, X-LINKED 2

General Information (adopted from Orphanet):

Synonyms, Signs: CEREBELLAR ATAXIA WITH EXTRAPYRAMIDAL INVOLVEMENT, EARLY-ONSET
SCAX2
Number of Symptoms 4
OrphanetNr:
OMIM Id: 302600
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0002071) Abnormality of extrapyramidal motor function 76 / 7739
2
(HPO:0001251) Ataxia 413 / 7739
3
(HPO:0001417) X-linked inheritance 173 / 7739
4
(OMIM) Late extrapyramidal signs 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Malamud and Cohen (1958) described a male infant with developed ataxia at age 10 months after normal early development. He also had head tremor, unilateral sixth nerve palsy, and mental retardation. At age 3 years, he developed spasticity ...