RORA

RORA

RAR related orphan receptor A

HCNC Approved Symbol: RORA (HGNC:10258)
Genomic Coordinates: 15:60,488,284 - 61,229,302 (15q22.2)
Synonyms: RZRA, ROR1, ROR2, ROR3, NR1F1, ROR-alpha, RORalpha, RORa1, RORα
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

2Patients

In total, 2 patients were diagnosed with a variant in the RORA gene.

Frequently observed phenotypes(Top 5 only)

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

02
Patient count

Ataxia: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Global developmental delay: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Epilepsia partialis continua: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)

Last updated: 2024-06-30