eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | pyle disease |
| Comorbidity | C0025362|mental retardation |
| Sentences | 4 |
| PubMedID- 24575553 | Dyggve-melchiore-clausen (dmc) syndrome is a are autosomal recessive spondyloepimetaphyseal dysplasia associated with mental retardation resulting from mutations in the dymeclin (dym) gene mapped in the 18q12-12.1 chromosomal region. |
| PubMedID- 25969613 | Dyggve-melchior-clausen syndrome is a progressive spondylo-epi-metaphyseal dysplasia associated with mental retardation, characterized by a triad of skeletal deformities (short trunk dwarfism, scoliosis, microcephaly, and limb deformities), facial dysmorphism, and intellectual disability. |
| PubMedID- 21149903 | Dyggve melchior clausen syndrome is a rare autosomal recessive disorder, characterized by progressive spondylo epi metaphyseal dysplasia associated with mental retardation. |
| PubMedID- 22090722 | It is a spondyloepimetaphyseal dysplasia associated with mental retardation. |
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