ALDH7A1 - Gene browser

ALDH7A1

aldehyde dehydrogenase 7 family member A1

HCNC Approved Symbol: ALDH7A1 (HGNC:877)
Genomic Coordinates: 5:126,541,841 - 126,595,219 (5q23.2)
Synonyms: EPD, PDE, ATQ1
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 ALDH7A1 gene.

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

011
Patient count

Seizures: 8 (72.7%)
Patient Count: 8 (72.7%)
% of total patients presenting each phenotype is shown in parentheses.
8 (72.7%)
Status epilepticus: 4 (36.4%)
Patient Count: 4 (36.4%)
% of total patients presenting each phenotype is shown in parentheses.
4 (36.4%)
Global developmental delay: 4 (36.4%)
Patient Count: 4 (36.4%)
% of total patients presenting each phenotype is shown in parentheses.
4 (36.4%)
Abnormal eeg: 2 (18.2%)
Patient Count: 2 (18.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (18.2%)
Delayed development: 2 (18.2%)
Patient Count: 2 (18.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (18.2%)