Pierson Syndrome(Microcoria-congenital nephrosis syndrome) Explore Disorder's Alias
An Autosomal recessive mode(s) within the Nephrological disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Nephrological 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 | LAMB2/3913 | laminin subunit beta 2 | 3p21.31 | Chr3, NC_000003.12 (49121114..49133050, complement) |
11937 nt | 33 | 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 |