PDHA1 - Gene browser

PDHA1

pyruvate dehydrogenase E1 subunit alpha 1

HCNC Approved Symbol: PDHA1 (HGNC:8806)
Genomic Coordinates: 23:19,343,927 - 19,361,718 (Xp22.12)
Synonyms: E1alpha, PDHA
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

29Patients

In total, 29 patients were diagnosed with a variant in the PDHA1 gene.

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

029
Patient count

Microcephaly: 10 (34.5%)
Patient Count: 10 (34.5%)
% of total patients presenting each phenotype is shown in parentheses.
10 (34.5%)
Global developmental delay: 6 (20.7%)
Patient Count: 6 (20.7%)
% of total patients presenting each phenotype is shown in parentheses.
6 (20.7%)
Hyperreflexia: 3 (10.3%)
Patient Count: 3 (10.3%)
% of total patients presenting each phenotype is shown in parentheses.
3 (10.3%)
Dysmorphism: 3 (10.3%)
Patient Count: 3 (10.3%)
% of total patients presenting each phenotype is shown in parentheses.
3 (10.3%)
Bitemporal narrowing: 2 (6.9%)
Patient Count: 2 (6.9%)
% of total patients presenting each phenotype is shown in parentheses.
2 (6.9%)