" /> 3q23 deletion - CISMeF





Preferred Label : 3q23 deletion;

ICD-11 definition : 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.;

ICD-11 synonym : BPES syndrome due to 3q23 microdeletion; Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion;

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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.

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28/07/2025


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