| Metadata | |
|---|---|
| ID | DOID:0080893 |
| Name | Bainbridge-Ropers syndrome |
| 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. https://pubmed.ncbi.nlm.nih.gov/27901041/, https://pubmed.ncbi.nlm.nih.gov/32132929/, https://pubmed.ncbi.nlm.nih.gov/23672984/, https://www.ncbi.nlm.nih.gov/books/NBK563693/, https://pubmed.ncbi.nlm.nih.gov/23383720/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
ASXL3-related disorder [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance has material basis in some loss_of_function_variant |