JKAMP

Syndromic neurodevelopmental disorder with urogenital manifestations, ERAD pathway-related

1 article(s) in the watch · Constitutional genetics

Curated publications

Biallelic variants in the ERAD pathway gene JKAMP cause a neurodevelopmental disorder with urogenital manifestations

Syndromic neurodevelopmental disorder with urogenital manifestations, ERAD pathway-related

Automatic aggregation page — a clinical introduction may be added.