Submission Details

Submitter:

Classification:
Definitive
GENCC:100001
Gene:
Disease:
spondyloepiphyseal dysplasia congenita
SED congenita
Mode Of Inheritance:
Autosomal dominant
Evaluated Date:
05/24/2023
PubMed IDs:
2543071 2339128 8325895 8423604 25060605 26358419 26626311 26443184 1353665 7738948 7847372 7866404 8019561 8244341 8723097 8877930
Public Report:
Assertion Criteria:
Submitter Submitted Date:
07/02/2025

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