Lowe Syndrome(Oculocerebrorenal syndrome of Lowe) Explore Disorder's Alias
An X-linked dominant mode(s) within the Metabolic disorders category
Candidate Gene Information
An X-linked dominant mode(s) within the Metabolic disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | OCRL/4952 | OCRL inositol polyphosphate-5-phosphatase | Xq26.1 | ChrX, NC_000023.11 (129540259..129592556) |
52298 nt | 24 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |