| Disease ID | Source | Name | Description |
| 271510 | OMIM | Spondyloepimetaphyseal dysplasia, sponastrime type (SEMDSP) | An autosomal recessive bone disease characterized by spine abnormalities, mid-face hypoplasia with a depressed nasal bridge, and striation of the metaphyses. Additional features include disproportionate short stature with exaggerated lumbar lordosis, scoliosis, coxa vara, limited elbow extension, small dysplastic epiphyses, childhood cataracts, short dental roots, and hypogammaglobulinemia. Disease severity and clinical manifestations are variable. Some patients have mental retardation. The disease is caused by variants affecting the gene represented in this entry. |