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 ) |