Description:
WEAVER SYNDROME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Connective Tissue, Muscle, and Bone |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Remarks |
Post-natal growth excess; camptodactyly; developmental delay; mild mental retardation; somewhat atypical facial appearance as an adult, more typical in early childhood; 46,XX in PBL |
| Deevy O, Li J, Monger C, Matrà F, Tuck E, Davies M, Badonyi M, Boyce M, Doyle EJ, Hokamp K, Nimmo D, Rodighiero S, Zhang Q, Davidovich C, Marsh JA, Pasini D, Conway E, Bracken AP, Dominant-negative effects of Weaver syndrome-associated EZH2 variants Genes & development39:1355-1376 2025 |
| PubMed ID: 40846643 |
| |
| Greenberg F, Wasiewski W, McCabe ER, Weaver syndrome: the changing phenotype in an adult. Am J Med Genet33:127-9 1989 |
| PubMed ID: 2750780 |
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