Simpson-Golabi-Behmel Syndrome Type 1(Bulldog syndrome) Explore Disorder's Alias
An X-linked recessive mode(s) within the Multisystemic disorders category
Candidate Gene Information
An X-linked recessive mode(s) within the Multisystemic 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 | GPC3/2719 | glypican 3 | Xq26.2 | ChrX, NC_000023.11 (133535745..133985594, complement) |
449850 nt | 11 | 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 | ||||||||
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Clinical Symptoms & Disabilities