Alpha Thalassemia-X-linked Intellectual Disability Syndrome(XLMR hypotonic face syndrome) Explore Disorder's Alias
An X-linked dominant mode(s) within the Multisystemic disorders category
Candidate Gene Information
An X-linked dominant 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 | ATRX/546 | ATRX chromatin remodeler | Xq21.1 | ChrX, NC_000023.11 (77504880..77786216, complement) |
281337 nt | 37 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | GBA1/2629 | glucosylceramidase beta 1 | 1q22 | Chr1, NC_000001.11 (155234452..155244627, complement) |
10176 nt | 12 | 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