ADSS1 - Gene browser

ADSS1

adenylosuccinate synthase 1

HCNC Approved Symbol: ADSS1 (HGNC:20093)
Genomic Coordinates: 14:104,724,229 - 104,747,325 (14q32.33)
Synonyms: FLJ38602, ADSSL1
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

24Patients

In total, 24 patients were diagnosed with a variant in the ADSS1 gene.

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

024
Patient count

Myopathy: 6 (25.0%)
Patient Count: 6 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
6 (25.0%)
Distal muscle weakness: 6 (25.0%)
Patient Count: 6 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
6 (25.0%)
Proximal muscle weakness: 6 (25.0%)
Patient Count: 6 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
6 (25.0%)
Treacher collins syndrome: 2 (8.3%)
Patient Count: 2 (8.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (8.3%)
Myotonia: 2 (8.3%)
Patient Count: 2 (8.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (8.3%)