Brunet-Wagner neurodevelopmental syndrome

Term ID

DOID:0061126

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. https://pubmed.ncbi.nlm.nih.gov/33980986/

References

• MIM:619690

Ontology

Human Disease   ( DOID:0061126 )