blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome
MONDO:0016858Mondo
Findings
No curated finding names blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Blepharophimosis-epicanthus inversus-ptosis (BPES) due to a point mutation is a form of BPES, characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be accompanied by growth retardation and primary ovary failure.
Definition from the Mondo Disease Ontology (MONDO:0016858), read 2026-09-29. CC BY 4.0.
Where it sits
Other names
1 name
Resolves to: blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome
- Also called
- blepharophimosis types 1 and 2 due to a point mutation