BECKWITH-WIEDEMANN SYNDROME

BWS

http://purl.bioontology.org/ontology/OMIM/130650

BWS

EMG SYNDROME

WIEDEMANN-BECKWITH SYNDROME

BECKWITH-WIEDEMANN SYNDROME CHROMOSOME REGION

WBS

EXOMPHALOS-MACROGLOSSIA-GIGANTISM SYNDROME

BWCR

C0004903

C1851719

11p15.5

BWS

WT2

ICR1

SRS1

http://purl.bioontology.org/ontology/OMIM/MTHU020097

http://purl.bioontology.org/ontology/OMIM/MTHU036362

http://purl.bioontology.org/ontology/OMIM/MTHU016123

http://purl.bioontology.org/ontology/OMIM/MTHU006854

http://purl.bioontology.org/ontology/OMIM/MTHU009017

http://purl.bioontology.org/ontology/OMIM/MTHU018366

http://purl.bioontology.org/ontology/OMIM/MTHU003988

http://purl.bioontology.org/ontology/OMIM/MTHU002029

http://purl.bioontology.org/ontology/OMIM/MTHU018374

http://purl.bioontology.org/ontology/OMIM/MTHU018376

http://purl.bioontology.org/ontology/OMIM/MTHU018379

http://purl.bioontology.org/ontology/OMIM/MTHU036706

http://purl.bioontology.org/ontology/OMIM/MTHU000259

http://purl.bioontology.org/ontology/OMIM/MTHU018382

http://purl.bioontology.org/ontology/OMIM/MTHU018380

http://purl.bioontology.org/ontology/OMIM/MTHU005829

http://purl.bioontology.org/ontology/OMIM/MTHU009606

http://purl.bioontology.org/ontology/OMIM/MTHU014910

http://purl.bioontology.org/ontology/OMIM/MTHU067146

http://purl.bioontology.org/ontology/OMIM/MTHU004211

http://purl.bioontology.org/ontology/OMIM/MTHU007922

http://purl.bioontology.org/ontology/OMIM/MTHU035862

http://purl.bioontology.org/ontology/OMIM/MTHU053432

http://purl.bioontology.org/ontology/OMIM/MTHU007103

http://purl.bioontology.org/ontology/OMIM/MTHU053428

http://purl.bioontology.org/ontology/OMIM/MTHU004559

http://purl.bioontology.org/ontology/OMIM/MTHU018368

http://purl.bioontology.org/ontology/OMIM/MTHU000066

http://purl.bioontology.org/ontology/OMIM/MTHU018365

http://purl.bioontology.org/ontology/OMIM/MTHU018378

http://purl.bioontology.org/ontology/OMIM/MTHU018367

http://purl.bioontology.org/ontology/OMIM/MTHU036371

http://purl.bioontology.org/ontology/OMIM/MTHU006873

http://purl.bioontology.org/ontology/OMIM/MTHU036393

http://purl.bioontology.org/ontology/OMIM/MTHU006863

http://purl.bioontology.org/ontology/OMIM/MTHU018375

http://purl.bioontology.org/ontology/OMIM/MTHU018373

http://purl.bioontology.org/ontology/OMIM/MTHU015904

http://purl.bioontology.org/ontology/OMIM/MTHU018383

http://purl.bioontology.org/ontology/OMIM/MTHU000268

http://purl.bioontology.org/ontology/OMIM/MTHU004590

http://purl.bioontology.org/ontology/OMIM/MTHU053427

http://purl.bioontology.org/ontology/OMIM/MTHU041267

Phenotype description, molecular basis known.

130650

3

pound

BECKWITH-WIEDEMANN SYNDROME

Caused by mutation in the nuclear receptor binding SET domain protein 1 (NSD1, 606681.0011) [MOLECULAR BASIS]

Most cases are isolated [MISCELLANEOUS]

Caused by mutation in the KCNQ1-opposite strand/antisense transcript 1 gene (KCNQ1OT1, 604115.0001) [MOLECULAR BASIS]

Caused by contiguous gene duplication of imprinted region of 11p15.5 [MOLECULAR BASIS]

Imprinted disorder [MISCELLANEOUS]

Caused by mutation in the cyclin-dependent kinase inhibitor 1C gene (CDKN1C, 600856.0001) [MOLECULAR BASIS]

Caused by contiguous gene deletion of imprinted region of 11p15.5 [MOLECULAR BASIS]

Wide phenotypic spectrum [MISCELLANEOUS]

Associated with assisted reproductive technologies [MISCELLANEOUS]

Imprinting at 11p15.5 [MISCELLANEOUS]

Occurs in 1 in 10,500 live births [MISCELLANEOUS]

T033

T047