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MIMS1

HGNC ↗

Spondyloepimetaphyseal dysplasia with tracheal stenosis and ectodermal dysplasia (SEMDTSED)

1 article(s) in the watch · Constitutional genetics

Curated publications

7/10

Biallelic Variants in MIMS1 Produce a Form of Spondyloepimetaphyseal Dysplasia With Tracheal Stenosis and Ectodermal Dysplasia (SEMDTSED).

Spondyloepimetaphyseal dysplasia with tracheal stenosis and ectodermal dysplasia (SEMDTSED)

Gén.14 July 2026

External references

OMIM ↗GeneReviews ↗ClinVar ↗NCBI Gene ↗

Automatic aggregation page — a clinical introduction may be added.