| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 3q22.3 | Blepharophimosis, epicanthus inversus, and ptosis, type 1 | 110100 | AD, AR | 3 |
| Blepharophimosis, epicanthus inversus, and ptosis, type 2 | 110100 | AD, AR | 3 | |
| Premature ovarian failure 3 | 608996 | AD | 3 |
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| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 3q22.3 | Blepharophimosis, epicanthus inversus, and ptosis, type 1 | 110100 | AD, AR | 3 | FOXL2 | 605597 |
| 3q22.3 | Blepharophimosis, epicanthus inversus, and ptosis, type 2 | 110100 | AD, AR | 3 | FOXL2 | 605597 |
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