FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Bainbridge-Ropers syndrome ID (Ontology) DOID:0080893 (Human Disease)
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.
Also Known As "ASXL3-related disorder"
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 Genes
 Bainbridge-Ropers syndrome       1
 for disease ribbon | Bainbridge-Ropers syndrome       1
 model of | Bainbridge-Ropers syndrome       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
disease                         |
 |__syndrome____________________|
                                Bainbridge-Ropers syndrome  1 rec.
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Is a autosomal dominant disease
syndrome
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Synonyms
  • "ASXL3-related disorder" EXACT
Secondary IDs
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GARD:13259
MIM:615485
ORDO:352577