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ALDH2

aldehyde dehydrogenase 2 family member

HCNC Approved Symbol
ALDH2 (HGNC:404)
Genomic Coordinates
12:111,766,933 - 111,817,532 (12q24.12)
Synonyms
Disease Associations
This gene is associated with the following 4 diseases in OMIM.

Diagnosed Cases

2Patients

In total, 2 patients were diagnosed with a variant in the ALDH2 gene.

Frequently observed phenotypes

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

Anemia
 1 (50.0%)
Thrombocytopenia
 1 (50.0%)
Global developmental delay
 1 (50.0%)
Hypotonia
 1 (50.0%)
Pancytopenia
 1 (50.0%)
ALDH2 - Gene browser | 3billion