Osteopathia Striata With Cranial Sclerosis(Hyperostosis generalisata with striations) Explore Disorder's Alias
An X-linked dominant mode(s) within the Bone disorders category
Candidate Gene Information
An X-linked dominant 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 | AMER1/139285 | APC membrane recruitment protein 1 | Xq11.2 | ChrX, NC_000023.11 (64185117..64205708, complement) |
20592 nt | 2 | 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