OCRL - Gene browser

OCRL

OCRL inositol polyphosphate-5-phosphatase

HCNC Approved Symbol: OCRL (HGNC:8108)
Genomic Coordinates: 23:129,540,259 - 129,592,556 (Xq26.1)
Synonyms: OCRL1, Dent-2
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

12Patients

In total, 12 patients were diagnosed with a variant in the OCRL gene.

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

012
Patient count

Global developmental delay: 4 (33.3%)
Patient Count: 4 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
4 (33.3%)
Cataracts: 4 (33.3%)
Patient Count: 4 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
4 (33.3%)
Hypotonia: 4 (33.3%)
Patient Count: 4 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
4 (33.3%)
Generalized hypotonia: 3 (25.0%)
Patient Count: 3 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (25.0%)
Intellectual disability: 3 (25.0%)
Patient Count: 3 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (25.0%)