3billion
back to listBack to List
Gene BrowserrightADSL

ADSL

adenylosuccinate lyase

HCNC Approved Symbol
ADSL (HGNC:291)
Genomic Coordinates
22:40,346,500 - 40,387,527 (22q13.1)
Synonyms
Disease Associations
This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

3Patients

Total 3 patients were diagnosed with a variant in the ADSL gene.

Frequently observed phenotypes (Top 5 only)

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

03
Patient count
Calf hypertrophy
 2(66.7%)
Patient Count: 2 (66.7%)

% of total patients presenting each phenotype is shown in parentheses.

 2(66.7%)
Delayed myelination
 2(66.7%)
Patient Count: 2 (66.7%)

% of total patients presenting each phenotype is shown in parentheses.

 2(66.7%)
Elevated creatine kinase
 2(66.7%)
Patient Count: 2 (66.7%)

% of total patients presenting each phenotype is shown in parentheses.

 2(66.7%)
Fine motor delay
 2(66.7%)
Patient Count: 2 (66.7%)

% of total patients presenting each phenotype is shown in parentheses.

 2(66.7%)
Frequent falls
 2(66.7%)
Patient Count: 2 (66.7%)

% of total patients presenting each phenotype is shown in parentheses.

 2(66.7%)
No Results
3billion logo

Searching for a Patient?

If you are searching for a patient with atypical phenotype or potential novel disease mechanism, or a patient with a specific variant*, please contact us.

*3billion is an active ClinVar submitter.
Your variant of interest may already be in ClinVar.