Term Name: Bainbridge-Ropers syndrome
Synonyms: ASXL3-related disorder
Definition: A syndrome that is characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, hypotonia, feeding difficulties, poor growth, and dysmorphic facial features and that has_material_basis_in heterozygous mutation in the ASXL3 gene on chromosome 18q12.
Ontology: Human Disease [DOID:0080893]   ( DOID:0080893 )

Relationships
is a type of: autosomal dominant disease syndrome