eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | pyle disease |
| Comorbidity | C0025958|microcephaly |
| 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. |
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