OFD1 - Gene browser

OFD1

OFD1 centriole and centriolar satellite protein

HCNC Approved Symbol: OFD1 (HGNC:2567)
Genomic Coordinates: 23:13,714,505 - 13,773,738 (Xp22.2)
Synonyms: 71-7A, JBTS10, CXorf5, RP23
Disease Associations: This gene is associated with the following 4 diseases in OMIM.

Diagnosed Cases

13Patients

In total, 13 patients were diagnosed with a variant in the OFD1 gene.

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

013
Patient count

Intellectual disability: 3 (23.1%)
Patient Count: 3 (23.1%)
% of total patients presenting each phenotype is shown in parentheses.
3 (23.1%)
Brachydactyly: 2 (15.4%)
Patient Count: 2 (15.4%)
% of total patients presenting each phenotype is shown in parentheses.
2 (15.4%)
Global developmental delay: 2 (15.4%)
Patient Count: 2 (15.4%)
% of total patients presenting each phenotype is shown in parentheses.
2 (15.4%)
Hypertelorism: 2 (15.4%)
Patient Count: 2 (15.4%)
% of total patients presenting each phenotype is shown in parentheses.
2 (15.4%)
Seizures: 2 (15.4%)
Patient Count: 2 (15.4%)
% of total patients presenting each phenotype is shown in parentheses.
2 (15.4%)