OPHN1 - Gene browser

OPHN1

oligophrenin 1

HCNC Approved Symbol: OPHN1 (HGNC:8148)
Genomic Coordinates: 23:68,042,344 - 68,433,841 (Xq12)
Synonyms: OPN1, ARHGAP41, MRX60
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

5Patients

In total, 5 patients were diagnosed with a variant in the OPHN1 gene.

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

05
Patient count

Intellectual disability: 3 (60.0%)
Patient Count: 3 (60.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (60.0%)
Cirrhosis: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)
Dandy-walker malformation: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)
Liver cirrhosis: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)
Mental retardation: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)