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ECHS1

HGNC ↗

Short-chain enoyl-CoA hydratase (SCEH) deficiency (ECHS1 gene)

1 article(s) in the watch · Constitutional genetics

Curated publications

6/10

Short-chain enoyl-CoA hydratase deficiency: a systematic review of clinical spectrum, genotype-phenotype correlations and survival predictors.

Short-chain enoyl-CoA hydratase (SCEH) deficiency (ECHS1 gene)

Gén.6 October 2026

External references

OMIM ↗GeneReviews ↗ClinVar ↗NCBI Gene ↗

Automatic aggregation page — a clinical introduction may be added.