3q23 deletion (Q96127): Difference between revisions
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Revision as of 12:02, 16 August 2026
Blepharophimosis - epicanthus inversus - ptosis (BPES) due to 3q23 microdeletion is a form of BPES, which in addition to the classical eyelids features of BPES, present genitourinary anomalies, spastic diplegia and speech delay.
| Language | Label | Description | Also known as |
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| default for all languages | ID_249272729 |
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| English | 3q23 deletion |
Blepharophimosis - epicanthus inversus - ptosis (BPES) due to 3q23 microdeletion is a form of BPES, which in addition to the classical eyelids features of BPES, present genitourinary anomalies, spastic diplegia and speech delay. |
