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 )

Relationships
is a type of: autosomal recessive intellectual developmental disorder syndrome