Tatton-Brown-Rahman syndrome
| Disorder | |
|---|---|
| OMIM #: | #615879 (Click to access OMIM database) |
| Disorder: | Tatton-Brown-Rahman syndrome |
| Also known as: | TBRS |
| Clinical | |
| Phenotype: | tall stature, macrocephaly, distinctive facial appearance, intellectual disability, joint hypermobiility |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal dominant |
| Mutations | |
| 1 Amish | |
| Gene: | DNMT3A |
| Base Change: | G>A, at nucleotide 2312 |
| Amino Acid Change: | arg 771 --> gln |
| Last updated: | 2022-11-12 |
| References |
|---|
| Xin B, Cruz Marino T, Szekely J, Leblanc J, Cechner K, Sency V, Wensel C, Barabas M, Therriault V, Wang H. (2017) Novel DNMT3A germline mutations are associated with inherited Tatton-Brown-Rahman syndrome. Clin Genet Apr;91(4):623-628. PubMed ID: 27701732 |
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