Disease #05303

Official abbreviation BCDS
Name syndrome, blepharocheilodontic (BCDS)
OMIM ID -
Individuals reported having this disease 36
Phenotype entries for this disease 36
Associated with 2 genes CDH1, CTNND1
Associated tissues -
Disease features -
Remarks -


Individuals

36 entries on 1 page. Showing entries 1 - 36.
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00106657 U1a - - M - Morocco - - 0 - - BCDS broad forehead (HP:0000337), euryblepharon (HP:0012905), lagophthalmos (HP:0030001), ectropion (HP:0000656), CL/P bilateral (HP:0000202), abnormal crown form (HP:?), everted lower lip (HP:0000232), sparse hair (HP:0008070), sclerocornea ODS (HP:0000647), hirsutism forehead (HP:0011335) - CDH1 1 1 Sanne Savelberg
00110508 USA1a - - F - Brazil - - 0 - - BCDS -HP:0002342; -HP:0000337; HP:0009890; HP:0000316; HP:0012905; HP:0030001; HP:0000656; HP:0000579; HP:0009743; -HP:0009755; HP:0000202; HP:0000668; ?HP:0000696; HP:0011077; -HP:0010296; HP:0000232; -HP:0002710; HP:0000303; HP:0000377; -HP:0001537/HP:0000023; -HP:0030084; -HP:0001159; -HP:0012385; HP:0008070; -HP:0001792; -HP:0000951; -HP:0000078; ?HP:0000834; ?HP:0000107/HP:0000126; -HP:0002023; -HP:0000821; -HP:0000453/HP:0000452; -HP:0045005; -HP:0012126; CDH1 CDH1 1 1 Sanne Savelberg
00110509 USA1b - - F - Brazil - - 0 - - BCDS -HP:0002342; -HP:0000337; HP:0009890; HP:0000316; HP:0012905; HP:0030001; HP:0000656; -HP:0000579; -HP:0009743; -HP:0009755; HP:0000202; HP:0000668; ?HP:0000696; HP:0011077; -HP:0010296; HP:0000232; -HP:0002710; HP:0000303; HP:0000377; -HP:0001537/HP:0000023; -HP:0030084; -HP:0001159; -HP:0012385; HP:0008070; -HP:0001792; -HP:0000951; -HP:0000078; -HP:0000834; -HP:0000107/HP:0000126; -HP:0002023; -HP:0000821; -HP:0000453/HP:0000452; -HP:0045005; -HP:0012126; CDH1 CDH1 1 1 Sanne Savelberg
00110510 S2 - - M - Brazil - - 0 - - BCDS -HP:0002342; -HP:0000337; -HP:0009890; -HP:0000316; HP:0012905; -HP:0030001; -HP:0000656; -HP:0000579; -HP:0009743; -HP:0009755; HP:0000202; -HP:0000668; ?HP:0000696; HP:0011077; -HP:0010296; -HP:0000232; -HP:0002710; HP:0000303; -HP:0000377; -HP:0001537/HP:0000023; -HP:0030084; -HP:0001159; -HP:0012385; -HP:0008070; -HP:0001792; -HP:0000951; -HP:0000078; ?HP:0000834; -HP:0002023; ?HP:0000821; -HP:0000453/HP:0000452; -HP:0045005; -HP:0012126; HP:0002650 CDH1 CDH1 1 1 Sanne Savelberg
00110511 S3 - - F - Brazil - - 0 - - BCDS -HP:0002342; -HP:0000337; -HP:0009890; -HP:0000316; HP:0012905; -HP:0030001; -HP:0000656; -HP:0000579; -HP:0009743; HP:0009755; HP:0000202; HP:0000668; ?HP:0000696; HP:0011077; -HP:0010296; -HP:0000232; -HP:0002710; -HP:0000303; HP:0000377; -HP:0001537/HP:0000023; HP:0030084; -HP:0001159; -HP:0012385; -HP:0008070; -HP:0001792; -HP:0000951; -HP:0000078; ?HP:0000834; -HP:0002023; ?HP:0000821; -HP:0000453/HP:0000452; -HP:0045005; -HP:0012126; HP:0010116 CTNND1 CTNND1, TMX2-CTNND1 1 1 Sanne Savelberg
00110512 R5a - - F - Netherlands Dutch - 0 - - BCDS -HP:0002342; -HP:0000337; HP:0009890; -HP:0000316; HP:0012905; HP:0030001; HP:0000656; -HP:0000579; HP:0009743; -HP:0009755; HP:0000202; HP:0000668; HP:0000696; HP:0011077; -HP:0010296; -HP:0000232; -HP:0002710; -HP:0000303; -HP:0000377; -HP:0001537/HP:0000023; -HP:0030084; -HP:0001159; -HP:0012385; -HP:0008070; -HP:0001792; -HP:0000951; -HP:0000078; -HP:0000834; -HP:0002023; -HP:0000821; -HP:0000453/HP:0000452; -HP:0045005; -HP:0012126 CDH1 CDH1 1 1 Sanne Savelberg
00110513 R5b - - M - Netherlands Dutch - 0 - - BCDS -HP:0002342; -HP:0000337; HP:0009890; HP:0000316; -HP:0012905; HP:0030001; -HP:0000656; -HP:0000579; HP:0009743; -HP:0009755; HP:0000202; HP:0000668; HP:0000696; HP:0011077; -HP:0010296; -HP:0000232; -HP:0002710; HP:0000303; -HP:0000377; -HP:0001537/HP:0000023; -HP:0030084; -HP:0001159; -HP:0012385; HP:0008070; -HP:0001792; -HP:0000951; -HP:0000078; -HP:0000834; -HP:0002023; -HP:0000821; -HP:0000453/HP:0000452; -HP:0045005; -HP:0012126; CDH1 CDH1 1 1 Sanne Savelberg
00110514 R5c - - M - Netherlands Dutch - 0 - - BCDS HP:0045005; -HP:0012126; CDH1 CDH1 1 1 Sanne Savelberg
00110515 U2 - - F - Netherlands Dutch - 0 - - BCDS -HP:0002342; HP:0000337; HP:0009890; HP:0000316; HP:0012905; HP:0030001; HP:0000656; -HP:0000579; -HP:0009743; HP:0009755; HP:0000202; ?HP:0000668; -HP:0000696; -HP:0011077; -HP:0010296; HP:0000232; -HP:0002710; -HP:0000303; HP:0000377; -HP:0001537/HP:0000023; -HP:0030084; -HP:0001159; -HP:0012385; HP:0008070; -HP:0001792; -HP:0000951; -HP:0000078; -HP:0000834; -HP:0002023; HP:0000821; -HP:0000453/HP:0000452; -HP:0045005; -HP:0012126; HP:0000653; HP:0002236 CDH1 CDH1 1 1 Sanne Savelberg
00110516 R1a - - M - Netherlands Dutch - 0 - - BCDS -HP:0002342; HP:0000337; HP:0009890; HP:0000316; HP:0012905; HP:0030001; -HP:0000656; -HP:0000579; HP:0009743; HP:0009755; HP:0000202; HP:0000668; HP:0000696; -HP:0011077; -HP:0010296; -HP:0000232; -HP:0002710; -HP:0000303; -HP:0000377; -HP:0001537/HP:0000023; -HP:0030084; -HP:0001159; -HP:0012385; HP:0008070; -HP:0001792; -HP:0000951; -HP:0000078; HP:0000834; HP:0000107/HP:0000126; -HP:0002023; -HP:0000821; -HP:0000453/HP:0000452; -HP:0045005; -HP:0012126; CTNND1 CTNND1, TMX2-CTNND1 1 1 Sanne Savelberg
00110517 R1b - - F - Netherlands Dutch - 0 - - BCDS -HP:0002342; -HP:0000337; -HP:0009890; HP:0000316; HP:0012905; HP:0030001; HP:0000656; -HP:0000579; HP:0009743; -HP:0009755; -HP:0000202; -HP:0000668; -HP:0000696; HP:0011077; -HP:0010296; -HP:0000232; -HP:0002710; -HP:0000303; -HP:0000377; -HP:0001537/HP:0000023; -HP:0030084; -HP:0001159; HP:0012385; -HP:0008070; -HP:0001792; -HP:0000951; -HP:0000078; -HP:0000834; ?HP:0000107/HP:0000126; -HP:0002023; -HP:0000821; -HP:0000453/HP:0000452; -HP:0045005; -HP:0012126; CTNND1 CTNND1, TMX2-CTNND1 1 1 Sanne Savelberg
00110518 R1c - - F - Netherlands Dutch - 0 - - BCDS -HP:0002342; -HP:0000337; HP:0009890; HP:0000316; HP:0012905; HP:0030001; HP:0000656; -HP:0000579; HP:0009743; HP:0009755; -HP:0000202; HP:0000668; HP:0000696; -HP:0011077; -HP:0010296; -HP:0000232; -HP:0002710; -HP:0000303; -HP:0000377; -HP:0001537/HP:0000023; -HP:0030084; -HP:0001159; -HP:0012385; HP:0008070; -HP:0001792; -HP:0000951; -HP:0000078; HP:0000834; HP:0000107/HP:0000126; -HP:0002023; -HP:0000821; -HP:0000453/HP:0000452; -HP:0045005; -HP:0012126; CTNND1 CTNND1, TMX2-CTNND1 1 1 Sanne Savelberg
00110519 R1d - - F - Netherlands Dutch - 0 - - BCDS -HP:0002342; -HP:0000337; -HP:0009890; HP:0000316; HP:0012905; HP:0030001; HP:0000656; -HP:0000579; HP:0009743; -HP:0009755; -HP:0000202; HP:0000668; HP:0000696; HP:0011077; -HP:0010296; -HP:0000232; -HP:0002710; -HP:0000303; -HP:0000377; -HP:0001537/HP:0000023; -HP:0030084; -HP:0001159; HP:0012385; -HP:0008070; -HP:0001792; -HP:0000951; -HP:0000078; HP:0000834; HP:0000107/HP:0000126; -HP:0002023; -HP:0000821; -HP:0000453/HP:0000452; -HP:0045005; -HP:0012126; CTNND1 CTNND1, TMX2-CTNND1 1 1 Sanne Savelberg
00110520 R1e - - F - Netherlands Dutch - 0 - - BCDS -HP:0002342; -HP:0000337; -HP:0009890; HP:0000316; HP:0012905; HP:0030001; HP:0000656; -HP:0000579; HP:0009743; HP:0009755; -HP:0000202; HP:0000668; HP:0000696; HP:0011077; -HP:0010296; -HP:0000232; -HP:0002710; -HP:0000303; -HP:0000377; -HP:0001537/HP:0000023; -HP:0030084; -HP:0001159; -HP:0012385; HP:0008070; -HP:0001792; -HP:0000951; -HP:0000078; HP:0000834; HP:0000107/HP:0000126; -HP:0002023; -HP:0000821; -HP:0000453/HP:0000452; -HP:0045005; -HP:0012126; CTNND1 CTNND1, TMX2-CTNND1 1 1 Sanne Savelberg
00110521 U3a - - F - Netherlands Dutch - 0 - - BCDS -HP:0002342; -HP:0000337; -HP:0009890; HP:0000316; -HP:0012905; -HP:0030001; HP:0000656; -HP:0000579; HP:0009743; -HP:0009755; HP:0000202; HP:0000668; ?HP:0000696; HP:0011077; -HP:0010296; -HP:0000232; -HP:0002710; -HP:0000303; -HP:0000377; -HP:0001537/HP:0000023; -HP:0030084; -HP:0001159; -HP:0012385; -HP:0008070; -HP:0001792; -HP:0000951; -HP:0000078; -HP:0000834; -HP:0000107/HP:0000126; -HP:0002023; -HP:0000821; -HP:0000453/HP:0000452; -HP:0045005; -HP:0012126; CTNND1 CTNND1, TMX2-CTNND1 1 1 Sanne Savelberg
00110522 U3b - - M - Netherlands Dutch - 0 - - BCDS -HP:0002342; HP:0000337; -HP:0009890; -HP:0000316; -HP:0012905; -HP:0030001; -HP:0000656; -HP:0000579; -HP:0009743; -HP:0009755; -HP:0000202; -HP:0000668; -HP:0000696; -HP:0011077; -HP:0010296; -HP:0000232; -HP:0002710; -HP:0000303; -HP:0000377; -HP:0001537/HP:0000023; -HP:0030084; -HP:0001159; -HP:0012385; -HP:0008070; -HP:0001792; -HP:0000951; -HP:0000078; -HP:0000834; -HP:0000107/HP:0000126; -HP:0002023; -HP:0000821; -HP:0000453/HP:0000452; -HP:0045005; -HP:0012126; CTNND1 CTNND1, TMX2-CTNND1 1 1 Sanne Savelberg
00110523 R19 - - M - India Indian - 0 - - BCDS HP:0002342; HP:0000337; HP:0009890; HP:0000316; HP:0012905; HP:0030001; HP:0000656; -HP:0000579; HP:0009743; HP:0009755; HP:0000202; HP:0000668; HP:0000696; HP:0011077; -HP:0010296; HP:0000232; -HP:0002710; HP:0000303; -HP:0000377; -HP:0001537/HP:0000023; HP:0030084; HP:0001159; -HP:0012385; HP:0008070; -HP:0001792; HP:0000951; -HP:0000078; -HP:0000834; -HP:0000107/HP:0000126; -HP:0002023; -HP:0000821; -HP:0000453/HP:0000452; -HP:0045005; -HP:0012126; CDH1 CDH1 1 1 Sanne Savelberg
00110524 R20 - - F - Italy Italian - 0 - - BCDS -HP:0002342; HP:0000337; HP:0009890; -HP:0000316; HP:0012905; HP:0030001; -HP:0000656; HP:0000579; HP:0009743; -HP:0009755; HP:0000202; HP:0000668; -HP:0000696; HP:0011077; -HP:0010296; -HP:0000232; -HP:0002710; -HP:0000303; -HP:0000377; -HP:0001537/HP:0000023; -HP:0030084; -HP:0001159; -HP:0012385; -HP:0008070; -HP:0001792; -HP:0000951; -HP:0000078; -HP:0000834; -HP:0000107/HP:0000126; -HP:0002023; -HP:0000821; -HP:0000453/HP:0000452; -HP:0045005; -HP:0012126; HP:0025247 CDH1 CDH1 1 1 Sanne Savelberg
00110525 U1b - - F - Morocco - - 0 - - BCDS -HP:0002342; -HP:0000337; -HP:0009890; -HP:0000316; -HP:0012905; -HP:0030001; -HP:0000656; -HP:0000579; -HP:0009743; -HP:0009755; -HP:0000202; -HP:0000668; ?HP:0000696; ?HP:0011077; -HP:0010296; -HP:0000232; -HP:0002710; -HP:0000303; -HP:0000377; -HP:0001537/HP:0000023; -HP:0030084; -HP:0001159; -HP:0012385; -HP:0008070; -HP:0001792; -HP:0000951; -HP:0000078; -HP:0000834; -HP:0000107/HP:0000126; -HP:0002023; -HP:0000821; -HP:0000453/HP:0000452; -HP:0045005; -HP:0012126; CDH1 CDH1 1 1 Sanne Savelberg
00110526 S1/R6 - - F - Spain - - 0 - - BCDS -HP:0002342; HP:0000337; HP:0009890; HP:0000316; HP:0012905; HP:0030001; HP:0000656; -HP:0000579; HP:0009743; -HP:0009755; HP:0000202; HP:0000668; HP:0000696; ?HP:0011077; -HP:0010296; HP:0000232; -HP:0002710; HP:0000303; HP:0000377; -HP:0001537/HP:0000023; -HP:0030084; -HP:0001159; -HP:0012385; HP:0008070; -HP:0001792; -HP:0000951; -HP:0000078; -HP:0000834; -HP:0002023; HP:0000821; -HP:0000453/HP:0000452; -HP:0045005; -HP:0012126; HP:0000410 CDH1 CDH1 1 1 Sanne Savelberg
00110527 R2 - - F - Turkey Turkish - 0 - - BCDS -HP:0000337; HP:0009890; HP:0000316; HP:0012905; HP:0030001; HP:0000656; -HP:0000579; HP:0009743; -HP:0009755; HP:0000202; HP:0000668; HP:0000696; -HP:0011077; -HP:0010296; HP:0000232; -HP:0000377; HP:0001159; HP:0008070; HP:0001792; HP:0002023; ?HP:0012126; CDH1 CDH1 1 1 Sanne Savelberg
00110528 R11 - - M - Turkey Turkish - 0 - - BCDS HP:0000316; HP:0012905; HP:0030001; HP:0000656; HP:0009743; HP:0000202; HP:0000668; HP:0000696; HP:0011077; HP:0000232; ?HP:0012126; CDH1 CDH1 1 1 Sanne Savelberg
00110529 R3 - - F - United Kingdom (Great Britain) - - 0 - - BCDS -HP:0002342; HP:0000337; HP:0009890; HP:0000316; HP:0012905; HP:0030001; -HP:0000579; -HP:0009743; -HP:0009755; HP:0000202; HP:0000668; HP:0000696; HP:0011077; -HP:0000232; -HP:0000303; -HP:0000377; -HP:0001537/HP:0000023; -HP:0030084; -HP:0001159; -HP:0012385; -HP:0008070; -HP:0001792; -HP:0000834; -HP:0002023; -HP:0000821; -HP:0045005; ?HP:0012126; - - 0 1 Sanne Savelberg
00110530 R4 - - M - United Kingdom (Great Britain) - - 0 - - BCDS -HP:0002342; HP:0000337; HP:0009890; HP:0000316; HP:0012905; HP:0030001; -HP:0000579; -HP:0009743; -HP:0009755; HP:0000202; HP:0000668; HP:0000696; -HP:0011077; -HP:0000232; -HP:0000303; -HP:0000377; -HP:0001537/HP:0000023; -HP:0030084; -HP:0001159; -HP:0012385; HP:0008070; -HP:0001792; -HP:0000834; -HP:0002023; -HP:0000821; -HP:0045005; ?HP:0012126; - - 0 1 Sanne Savelberg
00110531 S4 - - F - United States - - 0 - - BCDS -HP:0002342; -HP:0000337; -HP:0009890; -HP:0000316; HP:0012905; HP:0030001; HP:0000656; -HP:0000579; HP:0009743; -HP:0009755; HP:0000202; HP:0000668; HP:0000696; HP:0011077; -HP:0010296; HP:0000232; -HP:0002710; HP:0000303; HP:0000377; -HP:0001537/HP:0000023; -HP:0030084; -HP:0001159; -HP:0012385; HP:0008070; -HP:0001792; -HP:0000951; -HP:0000078; -HP:0000834; -HP:0000107/HP:0000126; -HP:0002023; -HP:0000821; -HP:0000453/HP:0000452; -HP:0045005; -HP:0012126; HP:0011800 CDH1 CDH1 1 1 Sanne Savelberg
00110532 USA2a - - F - United States - - 0 - - BCDS -HP:0002342; HP:0000337; HP:0009890; HP:0000316; HP:0000202; HP:0000668; HP:0011077; HP:0000303; -HP:0008070; -HP:0001792; -HP:0000951; -HP:0002023; -HP:0000821; HP:0045005; -HP:0012126; CDH1 CDH1 1 1 Sanne Savelberg
00110533 USA2b - - F - United States - - 0 - - BCDS -HP:0002342; HP:0000337; HP:0009890; HP:0000316; HP:0000579; HP:0000202; HP:0000668; HP:0011077; HP:0000232; HP:0000303; HP:0000377; -HP:0008070; -HP:0001792; -HP:0000951; -HP:0002023; HP:0000821; HP:0045005; -HP:0012126; CDH1 CDH1 1 1 Sanne Savelberg
00110534 USA2c - - F - United States - - 0 - - BCDS -HP:0002342; HP:0000337; HP:0009890; HP:0000316; HP:0009755; HP:0000668; HP:0000696; HP:0000232; HP:0000303; -HP:0008070; -HP:0001792; -HP:0000951; HP:0002023; HP:0000821; -HP:0012126; CDH1 CDH1 1 1 Sanne Savelberg
00248870 Fam6 PubMed: Ghoumid 2017 2-generation family, 1 affected, unaffected carrier father M - - - - 0 - - BCDS cleft lip/palate; eyelid anomalies ectropion, euryblepharon, lagophthalmy, distichiasis; hair anomalies; conical teeth; tooth agenesis; no nail dysplasia; no vertex aplasia; no choanal atresia; syndactyly (1/2); no anal atresia; no neural tube defect; no hypothyroidism CTNND1 CTNND1 1 1 Johan den Dunnen
00248871 Fam7 PubMed: Ghoumid 2017 2-generation family, 1 affected, unaffected non-carrier parents M - - - - 0 - - BCDS cleft lip/palate; eyelid anomalies ectropion, euryblepharon, lagophthalmy, distichiasis; hair anomalies; conical teeth; tooth agenesis; no nail dysplasia; no vertex aplasia; no choanal atresia; no syndactyly; no anal atresia; no neural tube defect; hypothyroidism CTNND1 CTNND1 1 1 Johan den Dunnen
00248872 Fam8 PubMed: Ghoumid 2017 2-generation family, affected mother/son F;M - - - - 0 - - BCDS cleft lip/palate (1/2); eyelid anomalies ectropion (2/2), euryblepharon (1/2), lagophthalmy (1/2), distichiasis (1/2); hair anomalies (1/2); conical teeth (2/2); tooth agenesis (2/2); no nail dysplasia; no vertex aplasia; no choanal atresia; no syndactyly; no anal atresia; no neural tube defect; no hypothyroidism CTNND1 CTNND1 1 2 Johan den Dunnen
00248874 Fam1 PubMed: Ghoumid 2017 2-generation family, 1 affected, unaffected heterozygous carrier mother F - - - - 0 - - BCDS no cleft lip/palate; eyelid anomalies ectropion, euryblepharon, lagophthalmy, distichiasis; hair anomalies; conical teeth; tooth agenesis; nail dysplasia; no vertex aplasia; choanal atresia; no syndactyly; anal atresia; no neural tube defect; hypothyroidism CDH1 CDH1 1 1 Johan den Dunnen
00248875 Fam2 PubMed: Ghoumid 2017 2-generation family, 1 affected, unaffected non-carrier mother F - - - - 0 - - BCDS cleft lip/palate; eyelid anomalies ectropion, euryblepharon, lagophthalmy, distichiasis; no hair anomalies; conical teeth; tooth agenesis; no nail dysplasia; no vertex aplasia; no choanal atresia; no syndactyly; no anal atresia; no neural tube defect; hypothyroidism CDH1 CDH1 1 1 Johan den Dunnen
00248877 Fam3 PubMed: Ghoumid 2017 2-generation family, affected twin sisters, unaffected heterozygous carrier parents F - - - - 0 - - BCDS cleft lip/palate (2/2); eyelid anomalies ectropion (2/2), euryblepharon (2/2), lagophthalmy (2/2), distichiasis (2/2); hair anomalies (2/2); conical teeth (2/2); tooth agenesis (2/2); nail dysplasia (2/2); no vertex aplasia; no choanal atresia; no syndactyly; no anal atresia; neural tube defect (2/2); no hypothyroidism CDH1 CDH1 1 2 Johan den Dunnen
00248878 Fam4 PubMed: Ghoumid 2017 2-generation family, affected mother/daughter F - - - - 0 - - BCDS cleft lip/palate (2/2); eyelid anomalies ectropion (2/2), euryblepharon (2/2), lagophthalmy (2/2), distichiasis (2/2); hair anomalies (2/2); no conical teeth; tooth agenesis (2/2); nail dysplasia (1/2); vertex aplasia (2/2); no choanal atresia; syndactyly (1/2); anal atresia (1/2); no neural tube defect; no hypothyroidism CDH1 CDH1 1 2 Johan den Dunnen
00248880 Fam5 PubMed: Ghoumid 2017 2-generation family, 1 affected (parents not available) F - - - - 0 - - BCDS cleft lip/palate; eyelid anomalies ectropion, euryblepharon, lagophthalmy, distichiasis; hair anomalies; conical teeth; tooth agenesis; nail dysplasia; no vertex aplasia; no choanal atresia; no syndactyly; no anal atresia; no neural tube defect; no hypothyroidism CDH1, CHD1 CDH1 1 1 Johan den Dunnen
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