Information on WSS
Basic details
Name: Wiedemann-Steiner syndrome | Acronym: WSS
Alt. names:
Gene: KMT2A | MOI: Autosomal dominant | Mechanism of action:
No. of cases in DB: 1 | First reported in: 2012
Last updated on: 2023-02-28 16:41:18 by
Description
Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing. Refs. PMIDs: 22795537; 25810209
Management
Description of management option has not been reviewed yet.
Please mind that full curation of this condition has not been completed yet. It is currently ongoing.
1 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|---|---|---|---|---|---|---|---|
103505 |
M | 215149 |
4 | 0 | Brazil | Brasilian | PMID:31630891 [P12] |
AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).
Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical term | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | Small for gestational age |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | short stature |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
Please mind that full curation of this condition has not been completed yet. It is currently ongoing.
Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
Please mind that full curation of this condition has not been completed yet. It is currently ongoing.