PEX12 - Gene browser

PEX12

peroxisomal biogenesis factor 12

HCNC Approved Symbol: PEX12 (HGNC:8854)
Genomic Coordinates: 17:35,574,795 - 35,578,571 (17q12)
Synonyms
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

3Patients

In total, 3 patients were diagnosed with a variant in the PEX12 gene.

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

03
Patient count

Appendicular hypotonia: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)
Axial hypotonia: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)
Global developmental delay: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)
Hyporeflexia: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)
Respiratory distress: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)