AIFM1 - Gene browser

AIFM1

apoptosis inducing factor mitochondria associated 1

HCNC Approved Symbol: AIFM1 (HGNC:8768)
Genomic Coordinates: 23:130,129,362 - 130,165,841 (Xq26.1)
Synonyms: AIF, CMTX4, DFNX5, PDCD8, NAMSD, AUNX1
Disease Associations: This gene is associated with the following 4 diseases in OMIM.

4Patients

In total, 4 patients were diagnosed with a variant in the AIFM1 gene.

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

04
Patient count

Hearing loss: 2 (50.0%)
Patient Count: 2 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (50.0%)
Bilateral basal ganglia lesions: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)
Brainstem abnormalities: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)
Dystonia: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)
Elevated brain lactate level by mrs: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)