| Disease name | Major synonyms / alternative names | OMIM number(s) | Inheritance | Estimated prevalence | Orphanet / MONDO / MeSH / ICD status in retrieved full text | Key references (year, URL) |
|---|---|---|---|---|---|---|
| ATR-X syndrome | ATRX syndrome; alpha-thalassemia/intellectual disability, X-linked; alpha-thalassemia X-linked intellectual disability syndrome; alpha-thalassemia mental retardation syndrome, X-linked | OMIM: 301040 | X-linked; primarily affects hemizygous males, with female carriers often minimally affected due to skewed X-inactivation (pqac-00000001, pqac-00000002, pqac-00000027) | Rare; estimated at ~1/30,000-1/40,000 male newborns in one 2024 review/case synthesis; worldwide prevalence otherwise described as unknown (pqac-00000000, pqac-00000003) | Orphanet: not found in retrieved full text for this disease entry; MONDO: Not found in retrieved full text; MeSH: Not found in retrieved full text; ICD: Not found in retrieved full text | Wang et al. 2024, https://doi.org/10.1186/s12887-024-05088-0; Tillotson et al. 2023, https://doi.org/10.1101/2023.01.25.525394; Yuan et al. 2024, https://doi.org/10.3389/fmolb.2024.1434398 (pqac-00000000, pqac-00000001, pqac-00000002, pqac-00000027, pqac-00000028) |
| ATRX-related disorder label noted in literature | X-linked intellectual disability-hypotonic facies syndrome-1 (MRXHF1); ATRX gene-related syndromes | OMIM: 309580 (MRXHF1, related ATRX-associated disorder noted in 2024 review/case report) | X-linked (pqac-00000028) | Not separately estimated in retrieved full text | Orphanet: Not found in retrieved full text; MONDO: Not found in retrieved full text; MeSH: Not found in retrieved full text; ICD: Not found in retrieved full text | Wang et al. 2024, https://doi.org/10.1186/s12887-024-05088-0 (pqac-00000028) |


*Table: This table summarizes the nomenclature and core identifiers for ATR-X syndrome from the retrieved evidence, including synonyms, OMIM entries, inheritance, prevalence estimates, and publication sources. It also flags identifier systems that were not explicitly available in the retrieved full text.*