ARSA - Gene browser

ARSA

arylsulfatase A

HCNC Approved Symbol: ARSA (HGNC:713)
Genomic Coordinates: 22:50,622,754 - 50,628,152 (22q13.33)
Synonyms: ASA
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

23Patients

In total, 23 patients were diagnosed with a variant in the ARSA gene.

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

023
Patient count

Neurodevelopmental regression: 5 (21.7%)
Patient Count: 5 (21.7%)
% of total patients presenting each phenotype is shown in parentheses.
5 (21.7%)
Spasticity: 5 (21.7%)
Patient Count: 5 (21.7%)
% of total patients presenting each phenotype is shown in parentheses.
5 (21.7%)
Leukodystrophy: 5 (21.7%)
Patient Count: 5 (21.7%)
% of total patients presenting each phenotype is shown in parentheses.
5 (21.7%)
Developmental regression: 5 (21.7%)
Patient Count: 5 (21.7%)
% of total patients presenting each phenotype is shown in parentheses.
5 (21.7%)
Nystagmus: 4 (17.4%)
Patient Count: 4 (17.4%)
% of total patients presenting each phenotype is shown in parentheses.
4 (17.4%)