FSHR

FSHR

follicle stimulating hormone receptor

HCNC Approved Symbol: FSHR (HGNC:3969)
Genomic Coordinates: 2:48,962,157 - 49,154,515 (2p16.3)
Synonyms: FSHRO, LGR1, ODG1
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

Diagnosed Cases

3Patients

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

Frequently observed phenotypes(Top 5 only)

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

03
Patient count

Absent/small ovary: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)
Infantile uterus: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)
Premature ovarian failure: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)
Primary amenorrhea: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)

Last updated: 2024-06-30