| Metadata | |
|---|---|
| ID | DOID:0070817 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070817 Copy |
| Name | neurodevelopmental disorder with seizures and joint laxity |
| 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. https://pubmed.ncbi.nlm.nih.gov/40442284/ |
| Xrefs | |
| SKOS |
exactMatch MIM:621302 exactMatch UMLS_CUI:C6065898 |
| Subsets |
DO_rare_slim |
| Synonyms |
NEDSJL [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |