OBO ID: DOID:0080893
Term Name: Bainbridge-Ropers syndrome Search Ontology:
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:
OTHER Bainbridge-Ropers syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ASXL3 Bainbridge-Ropers syndrome
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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