Submission Details

Submitter:

Classification:
Definitive
GENCC:100001
Gene:
Disease:
blepharophimosis - intellectual disability syndrome, SBBYS type
SBBYSS syndrome
Mode Of Inheritance:
Autosomal dominant
Evaluated Date:
04/30/2020
PubMed IDs:
30569622 30353918 29226580 28758091 28426343 28232779 27696664 26370006 26334766 25424711 24458743 23436491 22077973 28696035 30921092 31302922 31326210 31871732 32391291 33136874 34096026 35707592 36453961 37646730 37658610 38178270
Public Report:
Assertion Criteria:
Submitter Submitted Date:
07/02/2025

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