ETFDH - Gene browser

ETFDH

electron transfer flavoprotein dehydrogenase

HCNC Approved Symbol: ETFDH (HGNC:3483)
Genomic Coordinates: 4:158,672,296 - 158,709,623 (4q32.1)
Synonyms: ETFQO
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

13Patients

In total, 13 patients were diagnosed with a variant in the ETFDH gene.

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

013
Patient count

Elevated plasma acylcarnitine levels: 5 (38.5%)
Patient Count: 5 (38.5%)
% of total patients presenting each phenotype is shown in parentheses.
5 (38.5%)
Global developmental delay: 4 (30.8%)
Patient Count: 4 (30.8%)
% of total patients presenting each phenotype is shown in parentheses.
4 (30.8%)
Intellectual disability, mild: 4 (30.8%)
Patient Count: 4 (30.8%)
% of total patients presenting each phenotype is shown in parentheses.
4 (30.8%)
Elevated creatine kinase: 4 (30.8%)
Patient Count: 4 (30.8%)
% of total patients presenting each phenotype is shown in parentheses.
4 (30.8%)
Developmental delay: 3 (23.1%)
Patient Count: 3 (23.1%)
% of total patients presenting each phenotype is shown in parentheses.
3 (23.1%)