PedAM
Pediatric Disease Annotations & Medicines
| Disease | microphthalmia |
| Phenotype | C0008924|cleft lip |
| Sentences | 1 |
| PubMedID- 21070663 | microphthalmia in combination with cleft lip and palate have recently been described in another patient carrying the p.ala249glu variant [15], suggesting that the extra-ocular defects might also be attributed to the p.ala249glu variant. |
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