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Human Disease

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
Ontology
Human Disease   ( DOID:0080893 )
Relationships
is a type of
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Genes Involved
Zebrafish Models