PEX16 - Gene browser

PEX16

peroxisomal biogenesis factor 16

HCNC Approved Symbol: PEX16 (HGNC:8857)
Genomic Coordinates: 11:45,909,663 - 45,918,822 (11p11.2)
Synonyms
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

1Patient

In total, 1 patient was diagnosed with a variant in the PEX16 gene.

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

01
Patient count

Cerebral dysmyelination: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Developmental regression: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Global developmental delay: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Hyperreflexia: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Hypertonia: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)