Disease #05692 (BRWS (Baraitser-Winter syndrome (BRWS)))

Official abbreviation BRWS
Name Baraitser-Winter syndrome (BRWS)
OMIM ID -
Inheritance -
Individuals reported having this disease 42
Phenotype entries for this disease 42
Associated with 2 genes ACTB, ACTG1
Associated tissues -
Disease features -
Remarks -
Date created 2020-02-08 14:35:40 +01:00 (CET)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

42 entries on 1 page. Showing entries 1 - 42.
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00204317 LP98-085 PubMed: Rivière 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - BRWS short stature, no microcephaly postnatal; intellectual disability, hearing loss, seizures; trigonocephaly, hypertelorism, no high-arched eyebrows, congenital ptosis; coloboma; pachygyria-band anterior greater than posterior lissencephaly ACTB ACTB 1 1 Johan den Dunnen
00204318 LP90-050 PubMed: Rivière 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - BRWS short stature, microcephaly postnatal; severe intellectual disability; trigonocephaly, hypertelorism, high-arched eyebrows, congenital ptosis; coloboma; pachygyria-band anterior greater than posterior lissencephaly ACTB ACTB 1 1 Johan den Dunnen
00204320 61456 PubMed: Rivière 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - BRWS no short stature; seizures; trigonocephaly, hypertelorism, high-arched eyebrows, congenital ptosis; no coloboma; pachygyria only anterior greater than posterior lissencephaly ACTB ACTB 1 1 Johan den Dunnen
00204321 58248 PubMed: Rivière 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - BRWS see paper; ..., no short stature, no microcephaly postnatal; intellectual disability, no hearing loss, seizures; no trigonocephaly, hypertelorism, high-arched eyebrows, congenital ptosis; coloboma ACTB ACTB 1 1 Johan den Dunnen
00204330 LR06-241 PubMed: Rivière 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - BRWS short stature, microcephaly postnatal; intellectual disability, hearing loss, seizures; trigonocephaly, no hypertelorism, high-arched eyebrows, congenital ptosis; coloboma; pachygyria-band anterior greater than posterior lissencephaly ACTG1 ACTG1 1 1 SIB - Livia Famiglietti
00204331 LR04-298 PubMed: Rivière 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - BRWS no short stature, no microcephaly postnatal; seizures; trigonocephaly, hypertelorism, congenital ptosis; pachygyria only anterior greater than posterior lissencephaly ACTG1 ACTG1 1 1 SIB - Livia Famiglietti
00204332 58431 PubMed: Rivière 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - BRWS see paper;..., no short stature, no microcephaly postnatal; hearing loss, seizures; trigonocephaly, hypertelorism, high-arched eyebrows, congenital ptosis; no coloboma; pachygyria only anterior greater than posterior lissencephaly ACTG1 ACTG1, CXCL16, SLTM 3 1 SIB - Livia Famiglietti
00204334 LR03-033 PubMed: Rivière 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - BRWS no short stature, microcephaly postnatal; intellectual disability, hearing loss, no seizures; trigonocephaly, hypertelorism, high-arched eyebrows, congenital ptosis; coloboma; pachygyria only anterior greater than posterior lissencephaly ACTG1 ACTG1 1 1 SIB - Livia Famiglietti
00204335 LP92-083 PubMed: Rivière 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - BRWS see paper; ..., short stature, microcephaly postnatal; intellectual disability, hearing loss, seizures; trigonocephaly, hypertelorism, high-arched eyebrows, congenital ptosis; coloboma; pachygyria-band anterior greater than posterior lissencephaly ACTG1 ACTG1, PAX9 2 1 SIB - Livia Famiglietti
00267235 Pat1 PubMed: Chacon-Camacho 2020, Journal: Chacon-Camacho 2020 - M no Mexico - - - - - BRWS see paper; ... ACTG1 ACTG1 1 1 Oscar F Chacon-Camacho
00267236 Pat2 PubMed: Chacon-Camacho 2020, Journal: Chacon-Camacho 2020 - M no Mexico Mexican 06y - - - BRWS see paper; ... ACTG1 ACTG1 1 1 Oscar F Chacon-Camacho
00285856 LP98-096 PubMed: Rivière 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents F - England - - - - - BRWS short stature, microcephaly postnatal; intellectual disability, o hearing loss, seizures; trigonocephaly, hypertelorism, high-arched eyebrows, congenital ptosis; coloboma; pachygyria-band anterior greater than posterior lissencephaly ACTG1 ACTG1 1 1 Johan den Dunnen
00285857 11-10857 PubMed: Rivière 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - BRWS seizures; hypertelorism, high-arched eyebrows, congenital ptosis; coloboma ACTG1 ACTG1 1 1 Johan den Dunnen
00285858 59169 PubMed: Rivière 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - BRWS short stature, microcephaly postnatal; intellectual disability, no hearing loss, seizures; no trigonocephaly, hypertelorism, high-arched eyebrows, congenital ptosis; no coloboma; pachygyria only anterior greater than posterior lissencephaly ACTB ACTB 1 1 Johan den Dunnen
00285859 LR04-173 PubMed: Rivière 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - BRWS short stature, microcephaly postnatal; intellectual disability, hearing loss, seizures; trigonocephaly, hypertelorism, high-arched eyebrows, congenital ptosis; coloboma; pachygyria only anterior greater than posterior lissencephaly ACTB ACTB 1 1 Johan den Dunnen
00285860 LR09-079 PubMed: Rivière 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - BRWS short stature, microcephaly postnatal; intellectual disability, no hearing loss, seizures; trigonocephaly, hypertelorism, high-arched eyebrows, congenital ptosis; coloboma; pachygyria-band anterior greater than posterior lissencephaly ACTB ACTB 1 1 Johan den Dunnen
00285861 LR06-298 PubMed: Rivière 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - BRWS short stature, microcephaly postnatal; intellectual disability, hearing loss, seizures; trigonocephaly, hypertelorism, high-arched eyebrows, congenital ptosis; coloboma; pachygyria only anterior greater than posterior lissencephaly ACTB ACTB 1 1 Johan den Dunnen
00285862 11-11287 PubMed: Rivière 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - BRWS see paper; ..., no short stature, no microcephaly postnatal; intellectual disability, no hearing loss, seizures; trigonocephaly, hypertelorism, high-arched eyebrows, congenital ptosis; no coloboma; pachygyria only anterior greater than posterior lissencephaly ACTB ACTB 1 1 Johan den Dunnen
00285863 11-10211 PubMed: Rivière 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - BRWS no short stature, microcephaly postnatal; severe intellectual disability, hearing loss, seizures; trigonocephaly, hypertelorism, high-arched eyebrows, congenital ptosis; no coloboma ACTB ACTB 1 1 Johan den Dunnen
00285864 Pat1 PubMed: Di Donato 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - - - - - - BRWS see paper; ... ACTB ACTB 1 1 Johan den Dunnen
00285865 Pat2 PubMed: Di Donato 2014 - F no - - - - - - BRWS see paper; ... ACTB ACTB 1 1 Johan den Dunnen
00285866 Pat3 PubMed: Di Donato 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Canada - - - - - BRWS trigonocephaly; high arched eyebrows; ptosis; hypertelorism; broad nasal bridge; broad nasal tip, columella; anteverted nostrils; macrostomia; very high and narrow palate; low-set, long, dysplastic ears; low posterior hairline, webbed neck, frontal pachygyria, congenital pterygia axillae and elbows, duplicated halluces, genital anomalies, bilateral hydronephrosis, duplication right collecting system; moderate intelleectual disability, severely impaired speech; 20s-died of severe respiratory failure ACTB ACTB 1 1 Johan den Dunnen
00285867 PatB11 PubMed: Verloes 2015 - - - - - - - - - BRWS - ACTB ACTB 1 1 Johan den Dunnen
00285868 PatB17/Pat1 PubMed: Verloes 2015, PubMed: Ramer 1995 - - - - - - - - - BRWS - ACTB ACTB 1 1 Johan den Dunnen
00285869 PatB33 PubMed: Verloes 2015 - - - - - - - - - BRWS - ACTB ACTB 1 1 Johan den Dunnen
00285870 PatB15/case PubMed: Verloes 2015, PubMed: Bitton 2012 - - - - - - - - - BRWS - ACTB ACTB 1 1 Johan den Dunnen
00285871 PatB29 PubMed: Verloes 2015 - - - - - - - - - BRWS - ACTB ACTB 1 1 Johan den Dunnen
00285872 PatB20 PubMed: Verloes 2015 - - - - - - - - - BRWS - ACTB ACTB 1 1 Johan den Dunnen
00285873 PatB16 PubMed: Verloes 2015 - - - - - - - - - BRWS - ACTB ACTB 1 1 Johan den Dunnen
00285874 PatB28 PubMed: Verloes 2015 - - - - - - - - - BRWS - ACTB ACTB 1 1 Johan den Dunnen
00285875 PatB32/case/case PubMed: Verloes 2015, PubMed: Guion-Almeida 1992, PubMed: Guion-Almeida 2001 - F - Brazil - - - - - BRWS - ACTB ACTB 1 1 Johan den Dunnen
00285876 PatB12 PubMed: Verloes 2015 - - - - - - - - - BRWS - ACTB ACTB 1 1 Johan den Dunnen
00285877 PatB26/twin 1 PubMed: Verloes 2015, PubMed: Gearing 2002, PubMed: Procaccio 2006 2-generation family, affected twins, unaffected heterozygous carrier parents - - United States - - - - - BRWS - ACTB ACTB 1 1 Johan den Dunnen
00285878 PatB27/twin 2 PubMed: Verloes 2015, PubMed: Gearing 2002, PubMed: Procaccio 2006 twin 2 - - United States - - - - - BRWS - ACTB ACTB 1 1 Johan den Dunnen
00285879 PatB1 PubMed: Verloes 2015 - - - - - - - - - BRWS - ACTB ACTB 1 1 Johan den Dunnen
00285880 PatB18 PubMed: Verloes 2015 - - - - - - - - - BRWS - ACTB ACTB 1 1 Johan den Dunnen
00285881 PatB19 PubMed: Verloes 2015 - - - - - - - - - BRWS - ACTB ACTB 1 1 Johan den Dunnen
00285882 PatB30 PubMed: Eker 2014 - - - Turkey - - - - - BRWS - ACTB ACTB 1 1 Johan den Dunnen
00285883 PatB21 PubMed: Verloes 2015 - - - - - - - - - BRWS - ACTB ACTB 1 1 Johan den Dunnen
00285884 PatB14 PubMed: Verloes 2015 - - - - - - - - - BRWS - ACTB ACTB 1 1 Johan den Dunnen
00285885 PatB25 PubMed: Verloes 2015 - - - - - - - - - BRWS - ACTB ACTB 1 1 Johan den Dunnen
00285886 PatA4 PubMed: Verloes 2015 - - - - - - - - - BRWS - ACTG1 ACTG1 1 1 Johan den Dunnen
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