ADSL - Gene browser

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.

3Patients

In total, 3 patients were diagnosed with a variant in the ADSL gene.

(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%)