Phenotypes for disease #04281 (CDLS (Cornelia de Lange syndrome (CDLS)))

499 entries on 5 pages. Showing entries 1 - 100.
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AscendingPhenotype ID     
Phenotype details     
Diagnosis/Initial     
Diagnosis/Definite     
Inheritance     
Age/Examination     
Age/Diagnosis     
Age/Onset     
Phenotype/Onset     
Protein     
Owner     
Individual ID     
0000034225 see paper; ... - - Isolated (sporadic) - - - - - Ilaria Parenti 00025861
0000034226 see paper; ... - - Isolated (sporadic) - - - - - Ilaria Parenti 00025862
0000141925 see paper Cornelia de Lange syndrome CDLS-3 Isolated (sporadic) - - - - - Juan Pié 00179438
0000141926 see paper Cornelia de Lange syndrome CDLS-3 Isolated (sporadic) - - - - - Juan Pié 00179439
0000141927 see paper Cornelia de Lange syndrome CDLS-3 Isolated (sporadic) - - - - - Juan Pié 00179440
0000141928 see paper Cornelia de Lange syndrome CDLS-3 Isolated (sporadic) - - - - - Juan Pié 00179441
0000141929 see paper Cornelia de Lange syndrome CDLS-3 Isolated (sporadic) - - - - - Juan Pié 00179442
0000141930 see paper Cornelia de Lange syndrome CDLS-3 Isolated (sporadic) - - - - - Juan Pié 00179443
0000141931 mild; arched eyebrows, synophrys, long eyelashes, myopia, thin lips, small hands, small feet, proximally set thumbs, clinodactyly 5th finger, restriction elbow movements, hirsutism Cornelia de Lange syndrome CDLS-3 Isolated (sporadic) - - - - - Johan den Dunnen 00179444
0000141932 see paper Cornelia de Lange syndrome CDLS-3 Isolated (sporadic) - - - - - Juan Pié 00179445
0000141933 see paper Cornelia de Lange syndrome CDLS-3 Isolated (sporadic) - - - - - Juan Pié 00179446
0000141934 see paper Cornelia de Lange syndrome CDLS-3 Isolated (sporadic) - - - - - Juan Pié 00179447
0000141935 see paper Cornelia de Lange syndrome CDLS-3 Isolated (sporadic) - - - - - Juan Pié 00179448
0000141936 see paper Cornelia de Lange syndrome CDLS-3 Isolated (sporadic) - - - - - Juan Pié 00179449
0000141937 see paper Cornelia de Lange syndrome CDLS-3 Isolated (sporadic) - - - - - Juan Pié 00179450
0000141938 see paper Cornelia de Lange syndrome CDLS-3 Isolated (sporadic) - - - - - Juan Pié 00179451
0000141939 see paper Cornelia de Lange syndrome CDLS-3 Isolated (sporadic) - - - - - Juan Pié 00179452
0000141940 see paper Cornelia de Lange syndrome CDLS-3 Isolated (sporadic) - - - - - Juan Pié 00179453
0000141948 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 Cornelia de Lange syndrome CDLS-2 Unknown 8y - - - - Jorge Oliveira 00179462
0000141950 - Cornelia de Lange syndrome CDLS-2 Familial - - - - - Johan den Dunnen 00179464
0000141951 - Cornelia de Lange syndrome CDLS-2 Isolated (sporadic) - - - - - Johan den Dunnen 00179465
0000141952 - Cornelia de Lange syndrome CDLS-2 Isolated (sporadic) - - - - - Johan den Dunnen 00179466
0000141953 - Cornelia de Lange syndrome CDLS-2 Isolated (sporadic) - - - - - Johan den Dunnen 00179467
0000141954 - Cornelia de Lange syndrome CDLS-2 Isolated (sporadic) - - - - - Johan den Dunnen 00179468
0000141955 - Cornelia de Lange syndrome CDLS-2 Familial - - - - - Johan den Dunnen 00179469
0000141956 - Cornelia de Lange syndrome CDLS-2 Isolated (sporadic) - - - - - Johan den Dunnen 00179470
0000141957 - Cornelia de Lange syndrome CDLS-2 Isolated (sporadic) - - - - - Johan den Dunnen 00179471
0000141958 - Cornelia de Lange syndrome CDLS-2 Isolated (sporadic) - - - - - Johan den Dunnen 00179472
0000141959 - Cornelia de Lange syndrome CDLS-2 Isolated (sporadic) - - - - - Johan den Dunnen 00179473
0000141960 - Cornelia de Lange syndrome CDLS-2 Familial - - - - - Johan den Dunnen 00179474
0000141961 - Cornelia de Lange syndrome CDLS-2 Isolated (sporadic) - - - - - Johan den Dunnen 00179475
0000141962 - Cornelia de Lange syndrome CDLS-2 Isolated (sporadic) - - - - - Johan den Dunnen 00179476
0000141963 - Cornelia de Lange syndrome CDLS-2 Isolated (sporadic) - - - - - Johan den Dunnen 00179477
0000141964 - Cornelia de Lange syndrome CDLS-2 Isolated (sporadic) - - - - - Bert Redeker 00179478
0000141965 - Cornelia de Lange syndrome CDLS-2 Isolated (sporadic) - - - - - Bert Redeker 00179479
0000141966 - Cornelia de Lange syndrome CDLS-2 Isolated (sporadic) - - - - - Bert Redeker 00179480
0000141967 - Cornelia de Lange syndrome CDLS-2 Isolated (sporadic) - - - - - Bert Redeker 00179481
0000141968 - Cornelia de Lange syndrome CDLS-2 Isolated (sporadic) - - - - - Bert Redeker 00179482
0000141969 - Cornelia de Lange syndrome CDLS-2 Isolated (sporadic) - - - - - Bert Redeker 00179483
0000141970 - Cornelia de Lange syndrome CDLS-2 Isolated (sporadic) - - - - - Bert Redeker 00179484
0000141971 - Cornelia de Lange syndrome CDLS-2 Isolated (sporadic) - - - - - Bert Redeker 00179485
0000141972 - Cornelia de Lange syndrome CDLS-2 Isolated (sporadic) - - - - - Bert Redeker 00179486
0000141973 - Cornelia de Lange syndrome CDLS-2 Isolated (sporadic) - - - - - Bert Redeker 00179487
0000141974 - Cornelia de Lange syndrome CDLS-2 Isolated (sporadic) - - - - - Bert Redeker 00179488
0000141975 - Cornelia de Lange syndrome CDLS-2 Isolated (sporadic) - - - - - Bert Redeker 00179489
0000141976 - Cornelia de Lange syndrome CDLS-2 Isolated (sporadic) - - - - - Bert Redeker 00179490
0000141977 - Cornelia de Lange syndrome CDLS-2 Isolated (sporadic) - - - - - Bert Redeker 00179491
0000141978 - Cornelia de Lange syndrome CDLS-2 Isolated (sporadic) - - - - - Bert Redeker 00179492
0000141979 - Cornelia de Lange syndrome CDLS-2 Familial - - - - - Bert Redeker 00179493
0000141980 - Cornelia de Lange syndrome CDLS-2 Isolated (sporadic) - - - - - Bert Redeker 00179494
0000141981 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 Cornelia de Lange syndrome CDLS-2 Isolated (sporadic) - - - - - Bert Redeker 00179495
0000141982 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 Cornelia de Lange syndrome CDLS-2 Isolated (sporadic) - - - - - Bert Redeker 00179496
0000141983 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 Cornelia de Lange syndrome CDLS-2 Isolated (sporadic) - - - - - Bert Redeker 00179497
0000141984 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 Cornelia de Lange syndrome CDLS2 Isolated (sporadic) - - - - - Bert Redeker 00179498
0000141985 speech >4y; facial features; congenital heart defects; intrauterine growth retardation; no lower limb defects; no upper limb defects; severe intellectual disability; sit >20m Cornelia de Lange syndrome CDLS-2 Isolated (sporadic) - - - - - Bert Redeker 00179499
0000141986 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 Cornelia de Lange syndrome CDLS-2 Isolated (sporadic) - - - - - Bert Redeker 00179500
0000141987 facial features; intrauterine growth retardation; no lower limb defects; no upper limb defects; severe intellectual disability; sit 9m-20m; walking 18m-42m Cornelia de Lange syndrome CDLS-2 Isolated (sporadic) - - - - - Bert Redeker 00179501
0000141988 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) Cornelia de Lange syndrome CDLS-2 Isolated (sporadic) - - - - - Bert Redeker 00179502
0000141989 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 Cornelia de Lange syndrome CDLS-2 Isolated (sporadic) - - - - - Bert Redeker 00179503
0000141990 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 Cornelia de Lange syndrome CDLS-2 Isolated (sporadic) - - - - - Bert Redeker 00179504
0000141991 speech 2y-4y; facial features; intrauterine growth retardation; no lower limb defects; no upper limb defects; Moderate intellectual disability (IQ:35-50) Cornelia de Lange syndrome CDLS-2 Isolated (sporadic) - - - - - Bert Redeker 00179505
0000141992 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 Cornelia de Lange syndrome CDLS-2 Isolated (sporadic) - - - - - Bert Redeker 00179506
0000141993 - Cornelia de Lange syndrome CDLS-2 Isolated (sporadic) - - - - - Bert Redeker 00179507
0000141994 - Cornelia de Lange syndrome CDLS-2 Isolated (sporadic) - - - - - Bert Redeker 00179508
0000142008 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 Cornelia de Lange syndrome - Familial - - - - - Johan den Dunnen 00179524
0000142009 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 Cornelia de Lange syndrome - Familial - - - - - Johan den Dunnen 00179525
0000142010 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 Cornelia de Lange syndrome CDLS-1 Isolated (sporadic) 28y4m - - - - Cristina Dias 00179552
0000142011 moderate CDLS; speech?; facial anomalies; no facial cleft; hirsutism; intra uterine growth retardation; small feet; small hands; microcephaly; severe post natal growth retardation; Cornelia de Lange syndrome CDLS-1 Isolated (sporadic) - - - - - Cristina Dias 00179553
0000142012 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 Cornelia de Lange syndrome CDLS-1 Unknown - - - - - Cristina Dias 00179554
0000142013 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 Cornelia de Lange syndrome CDLS-1 Isolated (sporadic) 2y - - - - Cristina Dias 00179555
0000142014 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 Cornelia de Lange syndrome CDLS-1 Isolated (sporadic) 4y10m - - - - Cristina Dias 00179556
0000142015 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 Cornelia de Lange syndrome CDLS-1 Isolated (sporadic) 21y11m - - - - Cristina Dias 00179557
0000142016 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 Cornelia de Lange syndrome CDLS-1 Isolated (sporadic) - - - - - Cristina Dias 00179558
0000142017 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 Cornelia de Lange syndrome CDLS-1 Isolated (sporadic) 6y3m - - - - Cristina Dias 00179559
0000142018 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 Cornelia de Lange syndrome CDLS-1 Isolated (sporadic) 7y1m - - - - Cristina Dias 00179560
0000142019 moderate CDLS; facial anomalies; no facial cleft; genital anomalies; gastro-esophageal reflux disease; no congenital heart defects; hirsutism; no intra uterine growth retardation; small feet; small hands; severe mental retardation; microcephaly; severe post natal growth retardation; no urinary anomalies Cornelia de Lange syndrome CDLS-1 Isolated (sporadic) 25y4m - - - - Cristina Dias 00179561
0000142020 mild CDLS; speech?; facial anomalies; no facial cleft; no genital anomalies; gastro-esophageal reflux disease; no congenital heart defects; no hirsutism; intra uterine growth retardation; no lower limb defects; no upper limb defect; microcephaly; mild post natal growth retardation; no urinary anomalies Cornelia de Lange syndrome CDLS-1 Isolated (sporadic) 9y - - - - Cristina Dias 00179562
0000142021 mild CDLS; speech?; facial anomalies; no facial cleft; no genital anomalies; gastro-esophageal reflux disease; no congenital heart defects; hirsutism; no lower limb defects; no upper limb defect; moderate mental retardation (IQ:35-50); microcephaly; mild post natal growth retardation; no urinary anomalies Cornelia de Lange syndrome CDLS-1 Isolated (sporadic) - - - - - Cristina Dias 00179563
0000142022 mild CDLS; speech?; facial anomalies; no facial cleft; no genital anomalies; no congenital heart defects; no hirsutism; no lower limb defects; no upper limb defect; microcephaly; mild post natal growth retardation; no urinary anomalies Cornelia de Lange syndrome CDLS-1 Isolated (sporadic) - - - - - Cristina Dias 00179564
0000142023 facial anomalies; speech?; no facial cleft; no genital anomalies; no congenital heart defects; hirsutism; no intra uterine growth retardation; small hands; no microcephaly; urinary anomalies Cornelia de Lange syndrome CDLS-1 Isolated (sporadic) - - - - - Cristina Dias 00179565
0000142024 severe CDLS; speech?; facial anomalies; no facial cleft; genital anomalies; congenital heart defects; hirsutism; intra uterine growth retardation; no lower limb defects; no upper limb defect; microcephaly; Cornelia de Lange syndrome CDLS-1 Isolated (sporadic) 1m - - - - Cristina Dias 00179566
0000142025 mild CDLS; speech?; facial features?; hirsutism; small hands; moderate mental retardation (IQ:35-50); mild post natal growth retardation; Cornelia de Lange syndrome CDLS-1 Isolated (sporadic) 3y - - - - Cristina Dias 00179567
0000142026 mild CDLS; speech?; facial anomalies; hirsutism; small hands; moderate mental retardation (IQ:35-50); mild post natal growth retardation; Cornelia de Lange syndrome CDLS-1 Isolated (sporadic) 8y - - - - Cristina Dias 00179568
0000142027 mild CDLS; speech?; facial anomalies; hirsutism; small hands; moderate mental retardation (IQ:35-50); mild post natal growth retardation; Cornelia de Lange syndrome CDLS-1 Isolated (sporadic) 17y - - - - Cristina Dias 00179569
0000142028 severe CDLS; speech?; facial anomalies; cleft palate; hirsutism; upper limb defect digit(s); severe mental retardation; Cornelia de Lange syndrome CDLS-1 Isolated (sporadic) 4m15d - - - - Cristina Dias 00179570
0000142029 moderate CDLS; speech?; facial features?; genital anomalies; congenital heart defects; small hands; microcephaly; severe post natal growth retardation; Cornelia de Lange syndrome CDLS-1 Unknown - - - - - Cristina Dias 00179571
0000142030 moderate CDLS; speech?; facial anomalies; cleft palate; hirsutism; upper limb defect digit(s); severe mental retardation; severe post natal growth retardation; Cornelia de Lange syndrome CDLS-1 Isolated (sporadic) 23y - - - - Cristina Dias 00179572
0000142031 moderate CDLS; speech?; facial anomalies; gastro-esophageal reflux disease; no congenital heart defects; intra uterine growth retardation; no upper limb defect; severe mental retardation; microcephaly; Cornelia de Lange syndrome CDLS-1 Unknown - - - - - Cristina Dias 00179573
0000142032 mild CDLS; speech?; facial anomalies; genital anomalies; hirsutism; small hands; severe mental retardation; severe post natal growth retardation; Cornelia de Lange syndrome CDLS-1 Isolated (sporadic) 3y6m - - - - Cristina Dias 00179574
0000142033 severe CDLS; speech?; facial anomalies; hirsutism; upper limb defect digit(s); severe mental retardation; severe post natal growth retardation; Cornelia de Lange syndrome CDLS-1 Unknown 10y - - - - Cristina Dias 00179575
0000142034 mild CDLS; speech?; facial features?; small hands; microcephaly; Cornelia de Lange syndrome CDLS-1 Unknown - - - - - Cristina Dias 00179576
0000142035 mild CDLS; speech?; facial anomalies; intra uterine growth retardation; small hands; microcephaly; Cornelia de Lange syndrome CDLS-1 Isolated (sporadic) - - - - - Cristina Dias 00179577
0000142036 moderate CDLS; speech?; facial anomalies; no facial cleft; gastro-esophageal reflux disease; congenital heart defects; small hands; Cornelia de Lange syndrome CDLS-1 Isolated (sporadic) - - - - - Cristina Dias 00179578
0000142037 severe CDLS; speech?; facial anomalies; gastro-esophageal reflux disease; no congenital heart defects; intra uterine growth retardation; upper limb defect digit(s); severe mental retardation; microcephaly; Cornelia de Lange syndrome CDLS-1 Isolated (sporadic) - - - - - Cristina Dias 00179579
0000142038 severe CDLS; speech?; facial anomalies; gastro-esophageal reflux disease; no congenital heart defects; intra uterine growth retardation; upper limb defect digit(s); severe mental retardation; microcephaly; Cornelia de Lange syndrome CDLS-1 Isolated (sporadic) - - - - - Cristina Dias 00179580
0000142039 moderate CDLS; speech?; facial anomalies; gastro-esophageal reflux disease; no congenital heart defects; intra uterine growth retardation; no upper limb defect; severe mental retardation; microcephaly; Cornelia de Lange syndrome CDLS-1 Isolated (sporadic) - - - - - Cristina Dias 00179581
0000142040 moderate CDLS; speech?; facial anomalies; congenital heart defects; no upper limb defect; Cornelia de Lange syndrome CDLS-1 Isolated (sporadic) - - - - - Cristina Dias 00179582
0000142041 severe CDLS; speech?; facial anomalies; no gastro-esophageal reflux disease; no congenital heart defects; intra uterine growth retardation; upper limb defect digit(s); severe mental retardation; microcephaly; Cornelia de Lange syndrome CDLS-1 Unknown - - - - - Cristina Dias 00179583
0000142042 severe CDLS; speech?; facial anomalies; gastro-esophageal reflux disease; congenital heart defects; intra uterine growth retardation; upper limb defect digit(s); severe mental retardation; microcephaly; Cornelia de Lange syndrome CDLS-1 Isolated (sporadic) - - - - - Cristina Dias 00179584
0000142043 mild CDLS; speech?; facial anomalies; hirsutism; small hands; mild post natal growth retardation; Cornelia de Lange syndrome CDLS-1 Isolated (sporadic) 6y - - - - Cristina Dias 00179585
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