Disease #04281 (CDLS (Cornelia de Lange syndrome (CDLS)))

Official abbreviation CDLS
Name Cornelia de Lange syndrome (CDLS)
OMIM ID -
Inheritance -
Individuals reported having this disease 469
Phenotype entries for this disease 443
Associated with 1 gene NIPBL
Associated tissues -
Disease features -
Remarks -


Individuals

469 entries on 5 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3 4 5     Next › Last »

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Genes screened
Variants in genes
Variants     
Panel size     
Owner     
00025861 - PubMed: Parenti 2015, Journal: Parenti 2015 - F no Germany - - - - - CDLS see paper; ... - ANKRD11 1 1 Ilaria Parenti
00025862 - PubMed: Parenti 2015, Journal: Parenti 2015 - M no Italy - - - - - CDLS see paper; ... - ANKRD11 1 1 Ilaria Parenti
00179438 25655089-Pat1 PubMed: Gil-Rodriguez 2015, Journal: Gil-Rodriguez 2015 - - - - - - - - - CDLS see paper - - - 1 Juan Pié
00179439 25655089-Pat2 PubMed: Gil-Rodriguez 2015, Journal: Gil-Rodriguez 2015 - - - - - - - - - CDLS see paper - - - 1 Juan Pié
00179440 25655089-Pat3 PubMed: Gil-Rodriguez 2015, Journal: Gil-Rodriguez 2015 - - - - - - - - - CDLS see paper - - - 1 Juan Pié
00179441 25655089-Pat4 PubMed: Gil-Rodriguez 2015, Journal: Gil-Rodriguez 2015 - - - - - - - - - CDLS see paper - - - 1 Juan Pié
00179442 25655089-Pat5 PubMed: Gil-Rodriguez 2015, Journal: Gil-Rodriguez 2015 - - - - - - - - - CDLS see paper - - - 1 Juan Pié
00179443 25655089-Pat8 PubMed: Gil-Rodriguez 2015, Journal: Gil-Rodriguez 2015 - - - - - - - - - CDLS see paper - - - 1 Juan Pié
00179444 17273969.2P PubMed: Deardorff 2007 - M - - - - - - - CDLS mild; arched eyebrows, synophrys, long eyelashes, myopia, thin lips, small hands, small feet, proximally set thumbs, clinodactyly 5th finger, restriction elbow movements, hirsutism - - - 1 Johan den Dunnen
00179445 25655089-Pat7 PubMed: Gil-Rodriguez 2015, Journal: Gil-Rodriguez 2015 - - - - - - - - - CDLS see paper - - - 1 Juan Pié
00179446 25655089-Pat9 PubMed: Gil-Rodriguez 2015, Journal: Gil-Rodriguez 2015 - - - - - - - - - CDLS see paper - - - 1 Juan Pié
00179447 25655089-Pat10 PubMed: Gil-Rodriguez 2015, Journal: Gil-Rodriguez 2015 - - - - - - - - - CDLS see paper - - - 1 Juan Pié
00179448 25655089-Pat11 PubMed: Gil-Rodriguez 2015, Journal: Gil-Rodriguez 2015 - - - - - - - - - CDLS see paper - - - 1 Juan Pié
00179449 25655089-Pat12 PubMed: Gil-Rodriguez 2015, Journal: Gil-Rodriguez 2015 - - - - - - - - - CDLS see paper - - - 1 Juan Pié
00179450 25655089-Pat13 PubMed: Gil-Rodriguez 2015, Journal: Gil-Rodriguez 2015 - - - - - - - - - CDLS see paper - - - 1 Juan Pié
00179451 25655089-Pat14 PubMed: Gil-Rodriguez 2015, Journal: Gil-Rodriguez 2015 - - - - - - - - - CDLS see paper - - - 1 Juan Pié
00179452 25655089-Pat15 PubMed: Gil-Rodriguez 2015, Journal: Gil-Rodriguez 2015 - - - - - - - - - CDLS see paper - - - 1 Juan Pié
00179453 25655089-Pat16 PubMed: Gil-Rodriguez 2015, Journal: Gil-Rodriguez 2015 - - - - - - - - - CDLS see paper - - - 1 Juan Pié
00179462 ? - - F - Portugal - - - - - CDLS mild; facial features; no facial cleft; no genital anomalies; Yc; no congenital heart defects; hirsutism; intrauterine growth retardation; post-natal growth retardation; lower limb defects small feet only; upper limb defects small hands only; no microcephaly; no urinary anomalies SMC1A SMC1A 1 1 Jorge Oliveira
00179464 16604071.Fam1 PubMed: Musio 2006 3-generation family, 3 affecteds (2 brothers and first cousin), 3 non-affected female carriers M - (Italy) - - - - - CDLS - SMC1A SMC1A 1 6 Johan den Dunnen
00179465 16604071.Fam2-II.3 PubMed: Musio 2006 - M - (Italy) - - - - - CDLS - SMC1A SMC1A 1 1 Johan den Dunnen
00179466 16604071.3P PubMed: Deardorff 2007 - F - - - - - - - CDLS - SMC1A SMC1A 1 1 Johan den Dunnen
00179467 16604071.4P PubMed: Deardorff 2007 - M - - - - - - - CDLS - SMC1A SMC1A 1 1 Johan den Dunnen
00179468 16604071.5P PubMed: Deardorff 2007 - M - - - - - - - CDLS - SMC1A SMC1A 1 1 Johan den Dunnen
00179469 16604071.6P PubMed: Deardorff 2007 inherited from mildly affected mother M - - - - - - - CDLS - SMC1A SMC1A 1 1 Johan den Dunnen
00179470 16604071.7P PubMed: Deardorff 2007 sister of16604071.7S F - - - - - - - CDLS - SMC1A SMC1A 1 2 Johan den Dunnen
00179471 16604071.7S PubMed: Deardorff 2007 sister of 16604071.7P F - - - - - - - CDLS - SMC1A SMC1A 1 1 Johan den Dunnen
00179472 16604071.8P PubMed: Deardorff 2007 sister of 16604071.8S F - - - - - - - CDLS - SMC1A SMC1A 1 2 Johan den Dunnen
00179473 16604071.8S PubMed: Deardorff 2007 sister of 16604071.8P F - - - - - - - CDLS - SMC1A SMC1A 1 1 Johan den Dunnen
00179474 16604071.9P PubMed: Deardorff 2007 - F - - - - - - - CDLS - SMC1A SMC1A 1 1 Johan den Dunnen
00179475 16604071.10P PubMed: Deardorff 2007 - F - - - - - - - CDLS - SMC1A SMC1A 1 1 Johan den Dunnen
00179476 16604071.11P PubMed: Deardorff 2007 - F - - - - - - - CDLS - SMC1A SMC1A 1 1 Johan den Dunnen
00179477 16604071.12P PubMed: Deardorff 2007 - F - - - - - - - CDLS - SMC1A SMC1A 1 1 Johan den Dunnen
00179478 17221863-Pat2 PubMed: Borck 2007 - M - (France) - - - - - CDLS - SMC1A SMC1A 1 1 Bert Redeker
00179479 17221863-Pat1 PubMed: Borck 2007 - - - (France) - - - - - CDLS - SMC1A SMC1A 1 1 Bert Redeker
00179480 - Redeker (unpublished) - M - Netherlands - - - - - CDLS - SMC1A SMC1A 1 1 Bert Redeker
00179481 - Redeker (unpublished) - M - Netherlands - - - - - CDLS - SMC1A SMC1A 1 1 Bert Redeker
00179482 - Redeker (unpublished) - F - Netherlands - - - - - CDLS - SMC1A SMC1A 1 1 Bert Redeker
00179483 19701948-Pat3 PubMed: Liu 2009 - F - - - - - - - CDLS - SMC1A SMC1A 1 1 Bert Redeker
00179484 19701948-Pat5 PubMed: Liu 2009 - F - - - - - - - CDLS - SMC1A SMC1A 1 1 Bert Redeker
00179485 19701948-Pat6 PubMed: Liu 2009 - F - - - - - - - CDLS - SMC1A SMC1A 1 1 Bert Redeker
00179486 19701948-Pat7 PubMed: Liu 2009 - F - - - - - - - CDLS - SMC1A SMC1A 1 1 Bert Redeker
00179487 19701948-Pat10 PubMed: Liu 2009 - F - - - - - - - CDLS - SMC1A SMC1A 1 1 Bert Redeker
00179488 19701948-Pat11 PubMed: Liu 2009 - F - - - - - - - CDLS - SMC1A SMC1A 1 1 Bert Redeker
00179489 19701948-Pat13 PubMed: Liu 2009 - F - - - - - - - CDLS - SMC1A SMC1A 1 1 Bert Redeker
00179490 19701948-Pat15 PubMed: Liu 2009 - F - - - - - - - CDLS - SMC1A SMC1A 1 1 Bert Redeker
00179491 19701948-Pat16 PubMed: Liu 2009 - F - - - - - - - CDLS - SMC1A SMC1A 1 1 Bert Redeker
00179492 19701948-Pat18 PubMed: Liu 2009 - F - - - - - - - CDLS - SMC1A SMC1A 1 1 Bert Redeker
00179493 - Redeker (unpublished) - M - Netherlands - - - - - CDLS - SMC1A SMC1A 1 1 Bert Redeker
00179494 - Redeker (unpublished) - F - Netherlands - - - - - CDLS - SMC1A SMC1A 1 1 Bert Redeker
00179495 Pié C30 PubMed: Pié 2010 - M - Spain - - - - - CDLS no facial cleft; genital anomalies; congenital heart defects; no hirsutism; intrauterine growth retardation; post-natal growth retardation; lower limb defects small feet only; no upper limb defects; microcephaly; urinary anomalies SMC1A SMC1A 1 1 Bert Redeker
00179496 Pié C13 PubMed: Pié 2010 - F - Spain - - - - - CDLS facial cleft; genital anomalies; no congenital heart defects; no hirsutism; intrauterine growth retardation; no post-natal growth retardation; upper limb defects digits; microcephaly; urinary anomalies SMC1A SMC1A 1 1 Bert Redeker
00179497 Pié C2 PubMed: Pié 2010 - M - Romania - - - - - CDLS no facial cleft; no genital anomalies; congenital heart defects; hirsutism; no intrauterine growth retardation; post-natal growth retardation; upper limb defects digits; microcephaly; no urinary anomalies SMC1A SMC1A 1 1 Bert Redeker
00179498 Limongelli 2010 PubMed: Limongelli 2010 - F - Italy - - - - - CDLS intrauterine growth restriction (from 3rd month of pregnancy); 6y-weight, height and head circumference <3rd centile; frequent respiratory infections; severe gross motor delay, 4y-wheelchair, no speech; hypertrophic cardiomyopathy; synophrys; downslanting palpebral fissures, long curly eyelashes, thin vermilion (upper lip); hand and feet length <3rd centile; ptosis SMC1A SMC1A 1 1 Bert Redeker
00179499 Gervasini 1 PubMed: Gervasini 2013 - M - Italy - - - - - CDLS speech >4y; facial features; congenital heart defects; intrauterine growth retardation; no lower limb defects; no upper limb defects; severe intellectual disability; sit >20m SMC1A SMC1A 1 1 Bert Redeker
00179500 Gervasini 2 PubMed: Gervasini 2013 - F - - North Africa - - - - CDLS speech >4y; facial features; intrauterine growth retardation; lower limb defects small feet only; upper limb defects small hands only; Moderate intellectual disability (IQ:35-50); sit 9m-20m; walking 18m-42m SMC1A SMC1A 1 1 Bert Redeker
00179501 Gervasini 3 PubMed: Gervasini 2013 - F - Italy - - - - - CDLS facial features; intrauterine growth retardation; no lower limb defects; no upper limb defects; severe intellectual disability; sit 9m-20m; walking 18m-42m SMC1A SMC1A 1 1 Bert Redeker
00179502 Gervasini 4 PubMed: Gervasini 2013 - F - Switzerland - - - - - CDLS speech 2y-4y; facial features; intrauterine growth retardation; lower limb defects small feet only; upper limb defects small hands only; Mild intellectual disability (IQ:50-80) SMC1A SMC1A 1 1 Bert Redeker
00179503 Gervasini 5 PubMed: Gervasini 2013 - F - Italy - - - - - CDLS speech >4y; facial features; intrauterine growth retardation; no lower limb defects; no upper limb defects; severe intellectual disability; milestones in motor development delayed, sit >20m, walk >42m; weight, height and head circumference 50th–95th centile; facial dysmorphism (like CdLS), arched eyebrows, thin vermillion (upper lip), cleft palate; neurosensory hearing loss; astigmatism; corneal ulcers; needed assisted feeding SMC1A SMC1A 1 1 Bert Redeker
00179504 Gervasini 6 PubMed: Gervasini 2013 - F - Chile - - - - - CDLS speech 2y-4y; facial features; intrauterine growth retardation; lower limb defects small feet only; upper limb defects small hands only; sit 9m-20m; walking >42m SMC1A SMC1A 1 1 Bert Redeker
00179505 Gervasini 7 PubMed: Gervasini 2013 - F - Italy - - - - - CDLS speech 2y-4y; facial features; intrauterine growth retardation; no lower limb defects; no upper limb defects; Moderate intellectual disability (IQ:35-50) SMC1A SMC1A 1 1 Bert Redeker
00179506 Gervasini 8 PubMed: Gervasini 2013 - F - Italy - - - - - CDLS speech 2y-4y; facial features; no intrauterine growth retardation; no lower limb defects; no upper limb defects; Mild intellectual disability (IQ:50-80); sit 9m-20m; walking >42m SMC1A SMC1A 1 1 Bert Redeker
00179507 - Redeker (unpublished) - F - Denmark - - - - - CDLS - SMC1A SMC1A 1 1 Bert Redeker
00179508 - Redeker (unpublished) - M - Belgium - - - - - CDLS - SMC1A SMC1A 1 1 Bert Redeker
00179524 19412548-CDL238.II2 PubMed: Zhang 2009 son of 19412548-CDL238.I1 M - United States - - - - - CDLS typical facial dysmorphisms (microbrachycephaly, arched eye brows, synophrys, ptosis, long philtrum, low posterior hairline, short neck), single palmar creases, hirsutism, mental retardation, seizures, growth retardation (height and weight below 3rd centiles); small hands, no structural limb abnormalities, severe form megacolon PDS5B PDS5B 1 1 Johan den Dunnen
00179525 19412548-CDL238.II3 PubMed: Zhang 2009 daugther of 19412548-CDL238.I1 F - United States - - - - - CDLS typical facial dysmorphisms (microbrachycephaly, arched eye brows, synophrys, ptosis, long philtrum, low posterior hairline, short neck), single palmar creases, hirsutism, mental retardation, seizures, growth retardation (height and weight below 3rd centiles); small hands, no structural limb abnormalities, severe form megacolon PDS5B PDS5B 1 1 Johan den Dunnen
00179527 19412548-Pat PubMed: Zhang 2009 - - - United States - - - - - CDLS - PDS5B PDS5B 1 111 Johan den Dunnen
00179528 19412548-Pat PubMed: Zhang 2009 - - - United States - - - - - CDLS - PDS5B PDS5B 1 111 Johan den Dunnen
00179529 19412548-Pat PubMed: Zhang 2009 - - - United States - - - - - CDLS - PDS5B PDS5B 1 110 Johan den Dunnen
00179530 19412548-Pat PubMed: Zhang 2009 - - - United States - - - - - CDLS - PDS5B PDS5B 1 107 Johan den Dunnen
00179531 19412548-Pat PubMed: Zhang 2009 - - - United States - - - - - CDLS - PDS5B PDS5B 1 117 Johan den Dunnen
00179532 19412548-Pat PubMed: Zhang 2009 - - - United States - - - - - CDLS - PDS5B PDS5B 1 110 Johan den Dunnen
00179533 19412548-Pat PubMed: Zhang 2009 - - - United States - - - - - CDLS - PDS5B PDS5B 1 111 Johan den Dunnen
00179534 19412548-Pat PubMed: Zhang 2009 - - - United States - - - - - CDLS - PDS5B PDS5B 1 5 Johan den Dunnen
00179535 19412548-Pat PubMed: Zhang 2009 - - - United States - - - - - CDLS - PDS5B PDS5B 1 52 Johan den Dunnen
00179536 19412548-Pat PubMed: Zhang 2009 - - - United States - - - - - CDLS - PDS5B PDS5B 1 1 Johan den Dunnen
00179537 19412548-Pat PubMed: Zhang 2009 - - - United States - - - - - CDLS - PDS5B PDS5B 1 1 Johan den Dunnen
00179538 19412548-Pat PubMed: Zhang 2009 - - - United States - - - - - CDLS - PDS5B PDS5B 1 1 Johan den Dunnen
00179539 19412548-Pat PubMed: Zhang 2009 - - - United States - - - - - CDLS - PDS5B PDS5B 1 1 Johan den Dunnen
00179540 19412548-Pat PubMed: Zhang 2009 - - - United States - - - - - CDLS - PDS5A PDS5A 1 14 Johan den Dunnen
00179541 19412548-Pat PubMed: Zhang 2009 - - - United States - - - - - CDLS - PDS5A PDS5A 1 85 Johan den Dunnen
00179542 19412548-Pat PubMed: Zhang 2009 - - - United States - - - - - CDLS - PDS5A PDS5A 1 62 Johan den Dunnen
00179543 19412548-Pat PubMed: Zhang 2009 - - - United States - - - - - CDLS - PDS5A PDS5A 1 3 Johan den Dunnen
00179544 19412548-Pat PubMed: Zhang 2009 - - - United States - - - - - CDLS - PDS5A PDS5A 1 18 Johan den Dunnen
00179545 19412548-Pat PubMed: Zhang 2009 - - - United States - - - - - CDLS - PDS5A PDS5A 1 18 Johan den Dunnen
00179546 19412548-Pat PubMed: Zhang 2009 - - - United States - - - - - CDLS - PDS5A PDS5A 1 1 Johan den Dunnen
00179547 19412548-Pat PubMed: Zhang 2009 - - - United States - - - - - CDLS - PDS5A PDS5A 1 1 Johan den Dunnen
00179548 19412548-Pat PubMed: Zhang 2009 - - - United States - - - - - CDLS - PDS5A PDS5A 1 3 Johan den Dunnen
00179549 19412548-Pat PubMed: Zhang 2009 - - - United States - - - - - CDLS - PDS5A PDS5A 1 1 Johan den Dunnen
00179550 19412548-Pat PubMed: Zhang 2009 - - - United States - - - - - CDLS - PDS5A PDS5A 1 1 Johan den Dunnen
00179551 19412548-Pat PubMed: Zhang 2009 - - - United States - - - - - CDLS - PDS5A PDS5A 1 1 Johan den Dunnen
00179552 - - - M - Portugal white - - - - CDLS moderate CDLS; speech before 24m; facial anomalies; no facial cleft; genital anomalies; gastro-esophageal reflux disease; no congenital heart defects; hirsutism; intra uterine growth retardation; small feet; small hands; mild mental retardation (IQ:50-80); microcephaly; sit before 9m; walking before 18m; severe post natal growth retardation; no urinary anomalies NIPBL NIPBL 1 1 Cristina Dias
00179553 - PubMed: Oliveira 2010 - F - Portugal African - - - - CDLS moderate CDLS; speech?; facial anomalies; no facial cleft; hirsutism; intra uterine growth retardation; small feet; small hands; microcephaly; severe post natal growth retardation; NIPBL NIPBL 1 1 Cristina Dias
00179554 - PubMed: Oliveira 2010 - M - Portugal white 0d - - - CDLS severe CDLS; speech?; facial anomalies; no facial cleft; no genital anomalies; hirsutism; intra uterine growth retardation; small feet; upper limb defect hands; microcephaly; no urinary anomalies NIPBL NIPBL 1 1 Cristina Dias
00179555 - PubMed: Oliveira 2010 - F - Portugal - - - - - CDLS moderate CDLS; speech?; facial anomalies; no facial cleft; no genital anomalies; no gastro-esophageal reflux disease; no congenital heart defects; no hirsutism; intra uterine growth retardation; small feet; small hands; microcephaly; sit after 20m; walking after 42m; severe post natal growth retardation; urinary anomalies NIPBL NIPBL 1 1 Cristina Dias
00179556 - PubMed: Oliveira 2010 - F - Portugal white - - - - CDLS moderate CDLS; speech?; facial anomalies; no facial cleft; no genital anomalies; no gastro-esophageal reflux disease; congenital heart defects; hirsutism; intra uterine growth retardation; small feet; small hands; severe mental retardation; microcephaly; sit 9m-2m; walking after 42m; severe post natal growth retardation; no urinary anomalies NIPBL NIPBL 1 1 Cristina Dias
00179557 - PubMed: Oliveira 2010 - F - Portugal white - - - - CDLS moderate CDLS; speech?; facial anomalies; cleft palate; no genital anomalies; gastro-esophageal reflux disease; congenital heart defects; hirsutism; intra uterine growth retardation; small feet; small hands; severe mental retardation; microcephaly; sit after 20m; mild post natal growth retardation; no urinary anomalies NIPBL NIPBL 1 1 Cristina Dias
00179558 - PubMed: Oliveira 2010 - M - Portugal - - - - - CDLS moderate CDLS; speech 24m-48m; facial anomalies; no facial cleft; no genital anomalies; previously gastro-esophageal reflux disease; no congenital heart defects; no hirsutism; intra uterine growth retardation; no lower limb defects; small hands; mild mental retardation (IQ:50-80); microcephaly; walking 18m-42m; mild post natal growth retardation; no urinary anomalies NIPBL NIPBL 1 1 Cristina Dias
00179559 - - - F - Portugal - - - - - CDLS moderate CDLS; speech?; facial anomalies; no facial cleft; no genital anomalies; no gastro-esophageal reflux disease; no congenital heart defects; no hirsutism; intra uterine growth retardation; small feet; small hands; moderate mental retardation (IQ:35-50); microcephaly; severe post natal growth retardation; no urinary anomalies NIPBL NIPBL 1 1 Cristina Dias
00179560 - - - M - Portugal white - - - - CDLS moderate CDLS; speech > 48m; facial anomalies; no facial cleft; no genital anomalies; previously gastro-esophageal reflux disease; congenital heart defects; no hirsutism; intra uterine growth retardation; small feet; small hands; severe mental retardation; microcephaly; walking 18m-42m; severe post natal growth retardation; no urinary anomalies NIPBL NIPBL 1 1 Cristina Dias
Legend   How to query   « First ‹ Prev     1 2 3 4 5     Next › Last »

  Powered by LOVD v.3.0 Build 29
LOVD software ©2004-2023 Leiden University Medical Center 		There are currently no updates.