Weill-Marchesani Syndrome 1

Preferred Label : Weill-Marchesani Syndrome 1;

NCIt synonyms : Weill-Marchesani, Autosomal Recessive; Spherophakia-Brachymorphia Syndrome; Congenital Mesodermal Dysmorphodystrophy;

NCIt definition : An autosomal recessive subtype of Weill-Marchesani Syndrome caused by mutations in the ADAMTS10 gene, encoding a disintegrin and metalloproteinase with thrombospondin motifs 10.;

Details

Origin ID

C217411;

disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- ADAMTS10 Gene [NCIt concept]

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