ALDH5A1 - Gene browser

ALDH5A1

aldehyde dehydrogenase 5 family member A1

HCNC Approved Symbol: ALDH5A1 (HGNC:408)
Genomic Coordinates: 6:24,494,969 - 24,537,207 (6p22.3)
Synonyms: SSADH, SSDH
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

11Patients

In total, 11 patients were diagnosed with a variant in the ALDH5A1 gene.

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

011
Patient count

Global developmental delay: 4 (36.4%)
Patient Count: 4 (36.4%)
% of total patients presenting each phenotype is shown in parentheses.
4 (36.4%)
Cortical atrophy: 3 (27.3%)
Patient Count: 3 (27.3%)
% of total patients presenting each phenotype is shown in parentheses.
3 (27.3%)
Epilepsy: 2 (18.2%)
Patient Count: 2 (18.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (18.2%)
Clinodactyly: 2 (18.2%)
Patient Count: 2 (18.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (18.2%)
Developmental delay: 2 (18.2%)
Patient Count: 2 (18.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (18.2%)