Schwartz-Jampel Syndrome(Myotonic myopathy dwarfism chondrodystrophy and ocular and facial abnormalities) Explore Disorder's Alias
An Autosomal recessive mode(s) within the Bone disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Bone 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 | HSPG2/3339 | heparan sulfate proteoglycan 2 | 1p36.12 | Chr1, NC_000001.11 (21822244..21937310, complement) |
115067 nt | 103 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |