Term Name: | Brunet-Wagner neurodevelopmental syndrome |
---|---|
Synonyms: | BRUWAG |
Definition: | An autosomal recessive intellectual developmental disorder characterized by infantile hypotonia and severely impaired development affecting both motor and cognitive skills that has_material_basis_in homozygous or compound heterozygous mutation in the RBL2 gene on chromosome 16q12. |
Ontology: | Human Disease [DOID:0061126] ( DOID:0061126 ) |