| Disease ID | Source | Name | Description |
| 151050 | OMIM | Lenz-Majewski hyperostotic dwarfism (LMHD) | A syndrome of intellectual disability and multiple congenital anomalies that features generalized craniotubular hyperostosis. LMHD is characterized by the combination of sclerosing bone dysplasia, intellectual disability and distinct craniofacial, dental, cutaneous and distal limb anomalies. The progressive generalized hyperostosis associated with this syndrome affects the cranium, the vertebrae and the diaphyses of tubular bones, leading to severe growth restriction. The disease is caused by variants affecting the gene represented in this entry. |