Phenotypes for disease #00231 (BWS (Beckwith-Wiedemann syndrome (BWS)), OMIM:130650)

51 entries on 1 page. Showing entries 1 - 51.
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AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Cleft     

Kidney/Abnormality     

Protein     

Owner     

Individual ID     
0000015041 ear abnormality (HP:0000598); abnormal kidney (HP:0000077); macrosomia (HP:0001520); macroglossia (HP:0000158); organomegaly; no abdominal wall defect (-HP:0010866); no hypoglycemia (-HP:0001943); no heart abnormality (-HP:0001627); - - Isolated (sporadic) - - - - NA + - Eamonn Maher 00016439
0000015076 ear abnormality (HP:0000598); cleft palate (HP:0000175); macrosomia (HP:0001520); macroglossia (HP:0000158); abdominal wall defect (HP:0010866); no hypoglycemia (-HP:0001943); no heart abnormality (-HP:0001627); - - Isolated (sporadic) - - - - cleft palate (HP:0000175, +) n/a - Eamonn Maher 00016440
0000015077 - - - Isolated (sporadic) - - - - NA n/a - Eamonn Maher 00016441
0000015078 ear abnormality (HP:0000598); normal kidney (-HP:0000077); macroglossia (HP:0000158); no organomegaly; abdominal wall defect (HP:0010866); hypoglycemia (HP:0001943); no hemihypertrophy (-HP:0001528); no heart abnormality (-HP:0001627); tumor - - Familial - - - - NA - - Eamonn Maher 00016442
0000015079 abnormal karyotype; ear abnormality (HP:0000598); normal kidney (-HP:0000077); macrosomia (HP:0001520); macroglossia (HP:0000158); no organomegaly; no abdominal wall defect (-HP:0010866); no hypoglycemia (-HP:0001943); no hemihypertrophy (-HP:0001528); no heart abnormality (-HP:0001627); no tumor - - Isolated (sporadic) - - - - NA - - Eamonn Maher 00016443
0000015080 ear abnormality (HP:0000598); normal kidney (-HP:0000077); macrosomia (HP:0001520); macroglossia (HP:0000158); no organomegaly; abdominal wall defect (HP:0010866); hypoglycemia (HP:0001943); no hemihypertrophy (-HP:0001528); no heart abnormality (-HP:0001627); naevus flammeus (HP:0010733) ; no tumor - - Isolated (sporadic) - - - - n/a - - Eamonn Maher 00016444
0000015081 abnormal karyotype; ear abnormality (HP:0000598); abnormal kidney (HP:0000077); macrosomia (HP:0001520); macroglossia (HP:0000158); organomegaly; abdominal wall defect (HP:0010866); hypoglycemia (HP:0001943); no hemihypertrophy (-HP:0001528); heart abnormality (HP:0001627); no tumor - - Familial - - - - NA + - Eamonn Maher 00016445
0000015082 abnormal karyotype; ear abnormality (HP:0000598); cleft palate (HP:0000175); macrosomia (HP:0001520); macroglossia (HP:0000158); no organomegaly; abdominal wall defect (HP:0010866); hypoglycemia (HP:0001943); no hemihypertrophy (-HP:0001528); no naevus flammeus (-HP:0010733); no tumor - - Isolated (sporadic) - - - - cleft palate (HP:0000175, +) n/a - Eamonn Maher 00016446
0000015083 abnormal karyotype; ear abnormality (HP:0000598); normal kidney (-HP:0000077); macroglossia (HP:0000158); no organomegaly; abdominal wall defect (HP:0010866); no hypoglycemia (-HP:0001943); no hemihypertrophy (-HP:0001528); no heart abnormality (-HP:0001627); no tumor - - Familial - - - - NA - - Eamonn Maher 00016447
0000015084 ear abnormality (HP:0000598); macrosomia (HP:0001520); macroglossia (HP:0000158); abdominal wall defect (HP:0010866); no heart abnormality (-HP:0001627); - - Isolated (sporadic) - - - - NA n/a - Eamonn Maher 00016448
0000015085 ear abnormality (HP:0000598); normal kidney (-HP:0000077); macrosomia (HP:0001520); macroglossia (HP:0000158); no organomegaly; abdominal wall defect (HP:0010866); hypoglycemia (HP:0001943); no hemihypertrophy (-HP:0001528); no heart abnormality (-HP:0001627); naevus flammeus (HP:0010733) ; no tumor - - Isolated (sporadic) - - - - n/a - - Eamonn Maher 00016449
0000015086 ear abnormality (HP:0000598); cleft palate (HP:0000175); macrosomia (HP:0001520); macroglossia (HP:0000158); abdominal wall defect (HP:0010866); hypoglycemia (HP:0001943); no heart abnormality (-HP:0001627); naevus flammeus (HP:0010733) ; - - Isolated (sporadic) - - - - cleft palate (HP:0000175, +) n/a - Eamonn Maher 00016450
0000015087 abnormal karyotype; no ear abnormality (-HP:0000598); no cleft palate (-HP:0000175); no macrosomia (-HP:0001520); macroglossia (HP:0000158); no organomegaly; abdominal wall defect (HP:0010866); hypoglycemia (HP:0001943); no hemihypertrophy (-HP:0001528); heart abnormality (HP:0001627); no naevus flammeus (-HP:0010733); tumor - - Familial - - - - - n/a - Eamonn Maher 00016451
0000015088 ear abnormality (HP:0000598); abnormal kidney (HP:0000077); macrosomia (HP:0001520); macroglossia (HP:0000158); organomegaly; abdominal wall defect (HP:0010866); no hypoglycemia (-HP:0001943); no hemihypertrophy (-HP:0001528); heart abnormality (HP:0001627); naevus flammeus (HP:0010733) ; no tumor - - Familial - - - - n/a + - Eamonn Maher 00016452
0000015089 - - - Isolated (sporadic) - - - - NA n/a - Eamonn Maher 00016453
0000015090 abnormal karyotype; ear abnormality (HP:0000598); no cleft palate (-HP:0000175); macrosomia (HP:0001520); macroglossia (HP:0000158); organomegaly; abdominal wall defect (HP:0010866); no hypoglycemia (-HP:0001943); no hemihypertrophy (-HP:0001528); no naevus flammeus (-HP:0010733); no tumor - - Familial - - - - - n/a - Eamonn Maher 00016454
0000015091 ear abnormality (HP:0000598); normal kidney (-HP:0000077); macroglossia (HP:0000158); no organomegaly; abdominal wall defect (HP:0010866); no hypoglycemia (-HP:0001943); no hemihypertrophy (-HP:0001528); no heart abnormality (-HP:0001627); naevus flammeus (HP:0010733) ; no tumor - - Unknown - - - - n/a - - Eamonn Maher 00016455
0000015092 ear abnormality (HP:0000598); normal kidney (-HP:0000077); macrosomia (HP:0001520); macroglossia (HP:0000158); organomegaly; no abdominal wall defect (-HP:0010866); no hypoglycemia (-HP:0001943); no hemihypertrophy (-HP:0001528); no heart abnormality (-HP:0001627); naevus flammeus (HP:0010733) ; no tumor - - Familial - - - - n/a - - Eamonn Maher 00016456
0000015093 ear abnormality (HP:0000598); cleft palate (HP:0000175); macrosomia (HP:0001520); macroglossia (HP:0000158); abdominal wall defect (HP:0010866); no heart abnormality (-HP:0001627); naevus flammeus (HP:0010733) ; - - Familial - - - - cleft palate (HP:0000175, +) n/a - Eamonn Maher 00016457
0000015094 no ear abnormality (-HP:0000598); cleft palate (HP:0000175); macrosomia (HP:0001520); macroglossia (HP:0000158); abdominal wall defect (HP:0010866); hypoglycemia (HP:0001943); no heart abnormality (-HP:0001627); - - Isolated (sporadic) - - - - cleft palate (HP:0000175, +) n/a - Eamonn Maher 00016458
0000015095 abnormal karyotype; ear abnormality (HP:0000598); no cleft palate (-HP:0000175); macrosomia (HP:0001520); macroglossia (HP:0000158); no organomegaly; abdominal wall defect (HP:0010866); no hypoglycemia (-HP:0001943); no hemihypertrophy (-HP:0001528); naevus flammeus (HP:0010733) ; no tumor - - Isolated (sporadic) - - - - - n/a - Eamonn Maher 00016459
0000015096 abnormal karyotype; ear abnormality (HP:0000598); normal kidney (-HP:0000077); macrosomia (HP:0001520); macroglossia (HP:0000158); no organomegaly; abdominal wall defect (HP:0010866); hypoglycemia (HP:0001943); no hemihypertrophy (-HP:0001528); no heart abnormality (-HP:0001627); no tumor - - Isolated (sporadic) - - - - NA - - Eamonn Maher 00016460
0000015097 abnormal karyotype; ear abnormality (HP:0000598); cleft palate (HP:0000175); macrosomia (HP:0001520); no macroglossia (-HP:0000158); no organomegaly; abdominal wall defect (HP:0010866); no hypoglycemia (-HP:0001943); no hemihypertrophy (-HP:0001528); naevus flammeus (HP:0010733) ; no tumor - - Isolated (sporadic) - - - - cleft palate (HP:0000175, +) n/a - Eamonn Maher 00016461
0000015098 ear abnormality (HP:0000598); normal kidney (-HP:0000077); macrosomia (HP:0001520); macroglossia (HP:0000158); organomegaly; abdominal wall defect (HP:0010866); no hypoglycemia (-HP:0001943); no hemihypertrophy (-HP:0001528); no heart abnormality (-HP:0001627); no tumor - - Isolated (sporadic) - - - - NA - - Eamonn Maher 00016462
0000015099 - - - Unknown - - - - NA n/a - Eamonn Maher 00016463
0000015100 abnormal karyotype; ear abnormality (HP:0000598); normal kidney (-HP:0000077); no macrosomia (-HP:0001520); macroglossia (HP:0000158); organomegaly; abdominal wall defect (HP:0010866); no hypoglycemia (-HP:0001943); no hemihypertrophy (-HP:0001528); no heart abnormality (-HP:0001627); no tumor - - Familial - - - - NA - - Eamonn Maher 00016464
0000015101 ear abnormality (HP:0000598); normal kidney (-HP:0000077); macrosomia (HP:0001520); macroglossia (HP:0000158); no organomegaly; abdominal wall defect (HP:0010866); hypoglycemia (HP:0001943); no hemihypertrophy (-HP:0001528); no heart abnormality (-HP:0001627); no tumor - - Familial - - - - NA - - Eamonn Maher 00016465
0000015102 no ear abnormality (-HP:0000598); macrosomia (HP:0001520); macroglossia (HP:0000158); abdominal wall defect (HP:0010866); no hypoglycemia (-HP:0001943); no heart abnormality (-HP:0001627); - - Isolated (sporadic) - - - - NA n/a - Eamonn Maher 00016466
0000015103 ear abnormality (HP:0000598); normal kidney (-HP:0000077); macrosomia (HP:0001520); macroglossia (HP:0000158); no organomegaly; abdominal wall defect (HP:0010866); hypoglycemia (HP:0001943); no hemihypertrophy (-HP:0001528); no heart abnormality (-HP:0001627); no tumor - - Isolated (sporadic) - - - - NA - - Eamonn Maher 00016467
0000015104 ear abnormality (HP:0000598); normal kidney (-HP:0000077); macrosomia (HP:0001520); macroglossia (HP:0000158); no organomegaly; abdominal wall defect (HP:0010866); no hypoglycemia (-HP:0001943); no hemihypertrophy (-HP:0001528); no heart abnormality (-HP:0001627); naevus flammeus (HP:0010733) ; no tumor - - Familial - - - - n/a - - Eamonn Maher 00016468
0000015105 ear abnormality (HP:0000598); macrosomia (HP:0001520); macroglossia (HP:0000158); abdominal wall defect (HP:0010866); hypoglycemia (HP:0001943); no heart abnormality (-HP:0001627); - - Isolated (sporadic) - - - - NA n/a - Eamonn Maher 00016469
0000015106 ear abnormality (HP:0000598); macrosomia (HP:0001520); macroglossia (HP:0000158); organomegaly; abdominal wall defect (HP:0010866); no hypoglycemia (-HP:0001943); heart abnormality (HP:0001627); naevus flammeus (HP:0010733) ; - - Isolated (sporadic) - - - - n/a n/a - Eamonn Maher 00016470
0000015107 ear abnormality (HP:0000598); abnormal kidney (HP:0000077); macrosomia (HP:0001520); macroglossia (HP:0000158); abdominal wall defect (HP:0010866); no hypoglycemia (-HP:0001943); no heart abnormality (-HP:0001627); naevus flammeus (HP:0010733) ; - - Isolated (sporadic) - - - - n/a + - Eamonn Maher 00016471
0000015108 ear abnormality (HP:0000598); normal kidney (-HP:0000077); macrosomia (HP:0001520); no macroglossia (-HP:0000158); organomegaly; abdominal wall defect (HP:0010866); hypoglycemia (HP:0001943); no hemihypertrophy (-HP:0001528); no heart abnormality (-HP:0001627); no tumor - - Isolated (sporadic) - - - - NA - - Eamonn Maher 00016472
0000015109 see paper; ..., normal karyotype; placental mesenchymal dysplasia; ear abnormality (HP:0000598); macroglossia (HP:0000158); organomegaly; no hypoglycemia (-HP:0001943); naevus flammeus (HP:0010733) ; - - Isolated (sporadic) 00y00m00d - - - - - - Johan den Dunnen 00016473
0000015110 all affecteds inherited variant allele maternally; - - Familial, autosomal dominant - - - - - - - Johan den Dunnen 00016474
0000025783 - - - Unknown - - - - - - - Silvia Russo 00029837
0000025862 - - - Unknown - - - - - - - Silvia Russo 00032385
0000025863 - - - Unknown - - - - - - - Silvia Russo 00032387
0000025864 - - - Unknown - - - - - - - Silvia Russo 00032386
0000025865 - - - Unknown - - - - - - - Silvia Russo 00032384
0000025866 - - - Unknown - - - - - - - Silvia Russo 00032383
0000025867 - - - Unknown - - - - - - - Silvia Russo 00029838
0000025868 - - - Unknown - - - - - - - Silvia Russo 00029840
0000025869 - - - Unknown - - - - - - - Silvia Russo 00032395
0000025870 - - - Unknown - - - - - - - Silvia Russo 00032396
0000041467 see paper; ..., placental mesenchymal dysplasia; abdominal wall defect (HP:0010866); - - Familial - - - - - - - Jasmin Beygo 00054752
0000081892 macrosomia (HP:0001520); macroglossia (HP:0000158); hernia; nephroblastoma - - Isolated (sporadic) - - - - - - - Jack Brzezinski 00103960
0000081893 nevus simplex; macrosomia (HP:0001520); abdominal wall defect (HP:0010866); hypoglycemia (HP:0001943); hemihypertrophy (HP:0001528); heart abnormality (HP:0001627); nephrogenic rests - - Isolated (sporadic) - - - - - - - Jack Brzezinski 00103962
0000081894 macrosomia (HP:0001520); macroglossia (HP:0000158); organomegaly; abdominal wall defect (HP:0010866); nephroblastoma - - Isolated (sporadic) - - - - - - - Jack Brzezinski 00103963
0000228540 recurrent miscarriages, MLID in children - - Unknown 38y - - - - - - Thomas Eggermann 00301347
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