Bainbridge-Ropers syndrome (DOID:0080893)
Alliance: disease page
Synonyms: ASXL3-related disorder
Alt IDs: OMIM:615485, ORDO:352577
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.