RGDs registry under the 'Developmental / Cancer'
| Disorder Name (Total=2) | Aliases | Sub-Category | Gene | Indian Reports | Link |
|---|---|---|---|---|---|
| Beckwith-Wiedemann syndrome Autosomal dominant |
CDKN1C cyclin dependent kinase inhibitor 1C NSD1 nuclear receptor binding SET domain protein 1 DNMT1 DNA methyltransferase 1 |
Reports Updated as of Sep 05, 2023 |
PubMed | ||
| Weaver syndrome Autosomal dominant |
•Camptodactyly-overgrowth-unusual facies syndrome •Overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly •Weaver Smith syndrome •WVS |
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit |
Reports Updated as of Apr 28, 2026 |
PubMed |