ATAD3A - Gene browser

ATAD3A

ATPase family AAA domain containing 3A

HCNC Approved Symbol: ATAD3A (HGNC:25567)
Genomic Coordinates: 1:1,512,162 - 1,534,685 (1p36.33)
Synonyms: FLJ10709
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

8Patients

In total, 8 patients were diagnosed with a variant in the ATAD3A gene.

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

08
Patient count

Microcephaly: 4 (50.0%)
Patient Count: 4 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
4 (50.0%)
Abnormality of the face: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)
Ectodermal dysplasia: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)
Intellectual disability: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)
Optic neuropathy: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)