GCDH - Gene browser

GCDH

glutaryl-CoA dehydrogenase

HCNC Approved Symbol: GCDH (HGNC:4189)
Genomic Coordinates: 19:12,891,129 - 12,899,999 (19p13.13)
Synonyms: ACAD5, GCD
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

21Patients

In total, 21 patients were diagnosed with a variant in the GCDH gene.

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

021
Patient count

Glutaric aciduria: 10 (47.6%)
Patient Count: 10 (47.6%)
% of total patients presenting each phenotype is shown in parentheses.
10 (47.6%)
Macrocephaly: 7 (33.3%)
Patient Count: 7 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
7 (33.3%)
Dystonia: 5 (23.8%)
Patient Count: 5 (23.8%)
% of total patients presenting each phenotype is shown in parentheses.
5 (23.8%)
Seizures: 4 (19.0%)
Patient Count: 4 (19.0%)
% of total patients presenting each phenotype is shown in parentheses.
4 (19.0%)
Developmental delay: 3 (14.3%)
Patient Count: 3 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
3 (14.3%)