3q23 deletion (Q96127)
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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 |
|---|---|---|---|
| default for all languages | ID_249272729 |
||
| 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. |
Statements
CID11:ID_249272729
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