ASPA - Gene browser

ASPA

aspartoacylase

HCNC Approved Symbol: ASPA (HGNC:756)
Genomic Coordinates: 17:3,474,110 - 3,503,405 (17p13.2)
Synonyms: ASP, ACY2
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

6Patients

In total, 6 patients were diagnosed with a variant in the ASPA gene.

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

06
Patient count

Global development delay: 4 (66.7%)
Patient Count: 4 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
4 (66.7%)
Macrocephaly: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)
Global developmental delay: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)
Spasticity: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)
Brisk reflexes: 1 (16.7%)
Patient Count: 1 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
1 (16.7%)