| Identifier type | Value | Notes/definition | Source |
|---|---|---|---|
| Preferred disease name / synonym | Baraitser–Winter cerebrofrontofacial syndrome (BWCFF) | Unified designation proposed for previously separated clinical labels including Baraitser–Winter syndrome / Baraitser–Winter malformation syndrome and some Fryns–Aftimos / cerebrofrontofacial presentations; rare autosomal-dominant developmental disorder linked to ACTB or ACTG1 variants. (pqac-00000001, pqac-00000005, pqac-00000006) | Nie et al., 2022, Front Genet. https://doi.org/10.3389/fgene.2022.828120 ; Verloes et al., 2015, Eur J Hum Genet. https://doi.org/10.1038/ejhg.2014.95 |
| OMIM disease # | OMIM 243310 | Explicitly cited in multiple papers for Baraitser–Winter syndrome / BWCFF. (pqac-00000000, pqac-00000001, pqac-00000002, pqac-00000003, pqac-00000004) | Rivière et al., 2012, Nat Genet. https://doi.org/10.1038/ng.1091 ; Nie et al., 2022, Front Genet. https://doi.org/10.3389/fgene.2022.828120 ; Donato et al., 2014, Eur J Hum Genet. https://doi.org/10.1038/ejhg.2013.130 ; Aiyar et al., 2019, Clin Dysmorphol. https://doi.org/10.1097/MCD.0000000000000266 ; Dawidziuk et al., 2022, Int J Mol Sci. https://doi.org/10.3390/ijms23020692 |
| OMIM disease # / syndrome type label | OMIM 614583 | Cited as the second OMIM Baraitser–Winter entry / “type” in literature; associated with ACTG1-related disease in syndrome-type usage. (pqac-00000002, pqac-00000003, pqac-00000004) | Donato et al., 2014, Eur J Hum Genet. https://doi.org/10.1038/ejhg.2013.130 ; Aiyar et al., 2019, Clin Dysmorphol. https://doi.org/10.1097/MCD.0000000000000266 ; Dawidziuk et al., 2022, Int J Mol Sci. https://doi.org/10.3390/ijms23020692 |
| Other OMIM overlap | OMIM 606155 (Fryns–Aftimos syndrome) | Reported phenotypic overlap/reclassification; some patients originally labeled Fryns–Aftimos were found to harbor ACTB mutations and are considered within the Baraitser–Winter spectrum. (pqac-00000000, pqac-00000002) | Rivière et al., 2012, Nat Genet. https://doi.org/10.1038/ng.1091 ; Donato et al., 2014, Eur J Hum Genet. https://doi.org/10.1038/ejhg.2013.130 |
| Syndrome type label | BRWS1 | Used in recent literature for ACTB-associated Baraitser–Winter syndrome. (pqac-00000004) | Dawidziuk et al., 2022, Int J Mol Sci. https://doi.org/10.3390/ijms23020692 |
| Syndrome type label | BRWS2 | Used in recent literature for ACTG1-associated Baraitser–Winter syndrome. (pqac-00000004) | Dawidziuk et al., 2022, Int J Mol Sci. https://doi.org/10.3390/ijms23020692 |
| Historical synonym | Baraitser–Winter syndrome | Short disease name used throughout early and later primary literature; characterized by craniofacial anomalies, ocular coloboma, and neuronal migration defects. (pqac-00000000, pqac-00000002) | Rivière et al., 2012, Nat Genet. https://doi.org/10.1038/ng.1091 ; Donato et al., 2014, Eur J Hum Genet. https://doi.org/10.1038/ejhg.2013.130 |
| Historical synonym | Baraitser–Winter malformation syndrome (BWMS) | Legacy label included under unified BWCFF terminology. (pqac-00000006) | Verloes et al., 2015, Eur J Hum Genet. https://doi.org/10.1038/ejhg.2014.95 |
| Historical/overlap labels | Fryns–Aftimos (FA), cerebrofrontofacial syndrome / CFF (including CFF3) | Previously separate labels now considered overlapping with BWCFF in mutation-positive cases. (pqac-00000005, pqac-00000006) | Verloes et al., 2015, Eur J Hum Genet. https://doi.org/10.1038/ejhg.2014.95 |
| Causal gene | ACTB | One of the two cytoplasmic actin genes causing BWCFF; ACTB located at 7p22.1 in Verloes et al. (pqac-00000001, pqac-00000005, pqac-00000006) | Nie et al., 2022, Front Genet. https://doi.org/10.3389/fgene.2022.828120 ; Verloes et al., 2015, Eur J Hum Genet. https://doi.org/10.1038/ejhg.2014.95 |
| Causal gene | ACTG1 | One of the two cytoplasmic actin genes causing BWCFF; ACTG1 located at 17q25.3 in Verloes et al. (pqac-00000001, pqac-00000005, pqac-00000006) | Nie et al., 2022, Front Genet. https://doi.org/10.3389/fgene.2022.828120 ; Verloes et al., 2015, Eur J Hum Genet. https://doi.org/10.1038/ejhg.2014.95 |
| Gene transcript accession (explicitly stated) | ACTB: NM_001101.3 | Explicit transcript accession provided in mutation table/source description. (pqac-00000005) | Verloes et al., 2015, Eur J Hum Genet. https://doi.org/10.1038/ejhg.2014.95 |
| Gene transcript accession (explicitly stated) | ACTG1: NM_001199954.1 | Explicit transcript accession provided in mutation table/source description. (pqac-00000005) | Verloes et al., 2015, Eur J Hum Genet. https://doi.org/10.1038/ejhg.2014.95 |


*Table: This table compiles the main disease identifiers, synonyms, overlap labels, and causal genes used in the primary literature for Baraitser–Winter cerebrofrontofacial syndrome. It is useful for harmonizing nomenclature and linking OMIM disease entries with ACTB/ACTG1-mediated disease subtypes.*