Disorder "Blepharophimosis, ptosis, and epicanthus inversus syndrome"
Found 1 record
Disorder information
Disorder name:
Blepharophimosis, ptosis, and epicanthus inversus syndrome 
Disoder ID:
OMIM entry:
Definition:
Blepharophimosis, Ptosis, and Epicanthus Inversus syndrome (BPES) is an ophthalmic disorder characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with (type I) or without premature ovarian failure (POF; see this term) (type II) 
Modifier statisitcs
Record:
Gene:
Variant:
Reference:
Effect type:
Expressivity(1)  
Modifier effect:
Primary ovarian insufficiency(1)  
Modifier gene Variant Effect type Modifier effect Evidence Effect PubMed ID
BMP15 BMP15:rs41308602 Expressivity  Primary ovarian insufficiency  Assessment of genotype–phenotype associations  Associated with phenotypic variability in women with BPESmore more
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