Bainbridge-Ropers syndrome

Term ID

DOID:0080893

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. (5)

References

• GARD:13259
• MIM:615485
• ORDO:352577

Ontology

Human Disease   ( DOID:0080893 )