| Disease ID | Source | Name | Description |
| 602535 | OMIM | Marshall-Smith syndrome (MRSHSS) | A distinct malformation syndrome characterized by accelerated skeletal maturation, relative failure to thrive, respiratory difficulties, mental retardation, and unusual facies, including prominent forehead, shallow orbits, blue sclerae, depressed nasal bridge, and micrognathia. Additional skeletal findings include long and thin tubular bones, broad middle phalanges with relatively narrow distal phalanges, and scoliosis. The disease is caused by variants affecting the gene represented in this entry. |
| 614753 | OMIM | Sotos syndrome 2 (SOTOS2) | A form of Sotos syndrome, a childhood overgrowth syndrome characterized by prenatal and postnatal overgrowth, developmental delay, mental retardation, advanced bone age, and abnormal craniofacial morphology. SOTOS2 patients have macrocephaly, long narrow face, high forehead, slender habitus, scoliosis, and unusual behavior characterized especially by anxiety. The disease is caused by variants affecting the gene represented in this entry. |