WEAVER SYNDROME

WVS

http://purl.bioontology.org/ontology/OMIM/277590

WVS

WSS

WEAVER-SMITH SYNDROME

C0265210

7q35

WVS

EZH2

EZH1

http://purl.bioontology.org/ontology/OMIM/MTHU008782

http://purl.bioontology.org/ontology/OMIM/MTHU002088

http://purl.bioontology.org/ontology/OMIM/MTHU008776

http://purl.bioontology.org/ontology/OMIM/MTHU004603

http://purl.bioontology.org/ontology/OMIM/MTHU008780

http://purl.bioontology.org/ontology/OMIM/MTHU002153

http://purl.bioontology.org/ontology/OMIM/MTHU008786

http://purl.bioontology.org/ontology/OMIM/MTHU008774

http://purl.bioontology.org/ontology/OMIM/MTHU035847

http://purl.bioontology.org/ontology/OMIM/MTHU007951

http://purl.bioontology.org/ontology/OMIM/MTHU007845

http://purl.bioontology.org/ontology/OMIM/MTHU000079

http://purl.bioontology.org/ontology/OMIM/MTHU005316

http://purl.bioontology.org/ontology/OMIM/MTHU000579

http://purl.bioontology.org/ontology/OMIM/MTHU008784

http://purl.bioontology.org/ontology/OMIM/MTHU000575

http://purl.bioontology.org/ontology/OMIM/MTHU035854

http://purl.bioontology.org/ontology/OMIM/MTHU002543

http://purl.bioontology.org/ontology/OMIM/MTHU001361

http://purl.bioontology.org/ontology/OMIM/MTHU000389

http://purl.bioontology.org/ontology/OMIM/MTHU000589

http://purl.bioontology.org/ontology/OMIM/MTHU035852

http://purl.bioontology.org/ontology/OMIM/MTHU001221

http://purl.bioontology.org/ontology/OMIM/MTHU003860

http://purl.bioontology.org/ontology/OMIM/MTHU036912

http://purl.bioontology.org/ontology/OMIM/MTHU000036

http://purl.bioontology.org/ontology/OMIM/MTHU001153

http://purl.bioontology.org/ontology/OMIM/MTHU001452

http://purl.bioontology.org/ontology/OMIM/MTHU000133

http://purl.bioontology.org/ontology/OMIM/MTHU008779

http://purl.bioontology.org/ontology/OMIM/MTHU008771

http://purl.bioontology.org/ontology/OMIM/MTHU002079

http://purl.bioontology.org/ontology/OMIM/MTHU008775

http://purl.bioontology.org/ontology/OMIM/MTHU002374

http://purl.bioontology.org/ontology/OMIM/MTHU008773

http://purl.bioontology.org/ontology/OMIM/MTHU067945

http://purl.bioontology.org/ontology/OMIM/MTHU008785

http://purl.bioontology.org/ontology/OMIM/MTHU036958

http://purl.bioontology.org/ontology/OMIM/MTHU001172

http://purl.bioontology.org/ontology/OMIM/MTHU008783

http://purl.bioontology.org/ontology/OMIM/MTHU008781

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

http://purl.bioontology.org/ontology/OMIM/MTHU000560

http://purl.bioontology.org/ontology/OMIM/MTHU035848

http://purl.bioontology.org/ontology/OMIM/MTHU001061

http://purl.bioontology.org/ontology/OMIM/MTHU000244

http://purl.bioontology.org/ontology/OMIM/MTHU000300

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

http://purl.bioontology.org/ontology/OMIM/MTHU008675

http://purl.bioontology.org/ontology/OMIM/MTHU000185

http://purl.bioontology.org/ontology/OMIM/MTHU006883

http://purl.bioontology.org/ontology/OMIM/MTHU000189

http://purl.bioontology.org/ontology/OMIM/MTHU000681

http://purl.bioontology.org/ontology/OMIM/MTHU000263

http://purl.bioontology.org/ontology/OMIM/MTHU000335

http://purl.bioontology.org/ontology/OMIM/MTHU000094

http://purl.bioontology.org/ontology/OMIM/MTHU000197

http://purl.bioontology.org/ontology/OMIM/MTHU008778

http://purl.bioontology.org/ontology/OMIM/MTHU008772

http://purl.bioontology.org/ontology/OMIM/MTHU008770

http://purl.bioontology.org/ontology/OMIM/MTHU000559

http://purl.bioontology.org/ontology/OMIM/MTHU036366

http://purl.bioontology.org/ontology/OMIM/MTHU037262

Phenotype description, molecular basis known.

614421

277590

3

pound

WEAVER SYNDROME

Caused by mutation in the homolog 2 of Drosophila enhancer of zeste (EZH2, 601573.0001) [MOLECULAR BASIS]

Most cases are sporadic [MISCELLANEOUS]

Significant clinical overlap with Sotos syndrome (117550) [MISCELLANEOUS]

T047