PedAM
Pediatric Disease Annotations & Medicines
| Disease | microcephaly |
| Phenotype | C0265294|metaphyseal dysplasia |
| Sentences | 1 |
| PubMedID- 25652408 | Dymeclin is a golgi-associated protein whose deficiency causes dyggve-melchior-clausen syndrome (dmc, mim #223800), a rare recessively inherited spondyloepimetaphyseal dysplasia consistently associated with postnatal microcephaly and intellectual disability. |
Page: 1