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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Ethnicity
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HISPANIC
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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 |
Height, weight, & head circumference >90th %ile; developmental delay; retarded speech; bilat lacrimal duct obstruction; broad forehead; hypertelorism; micrognathia; bilat genu varum; lrg hands & feet; mild hypotonia; 46,XY 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 |
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