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neurodevelopmental disorder with seizures and joint laxity (DOID:0070817)
Alliance: disease page
Synonyms: NEDSJL
Alt IDs: OMIM:621302, UMLS_CUI:C6065898
Definition: An autosomal dominant intellectual developmental disorder characterized by global developmental delay, impaired intellectual development, seizures, joint hypermobility, hypotonia, macrocephaly, and failure to thrive that has_material_basis_in heterozygous mutation in the RNU5B-1 gene on chromosome 15q22.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
09/01/2026
MGI 6.24 		The Jackson Laboratory