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Bainbridge-Ropers syndrome
Summary
- Synonym
-
- 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.
- Super Class
- autosomal dominant disease syndrome
External Links
- Disease Ontology
- DOID:0080893
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
