Renpenning Syndrome(Sutherland-Haan syndrome)
An X-linked recessive mode(s) within the Neurodevelopmental disorders category
Candidate Gene Information
An X-linked recessive mode(s) within the Neurodevelopmental 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 | PQBP1/10084 | polyglutamine binding protein 1 | Xp11.23 | ChrX, NC_000023.11 (48897930..48903143) |
5214 nt | 8 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities