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:
1
Gene:
1
Variant:
1
Reference:
1
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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