| Disease ID | Source | Name | Description |
| 618828 | OMIM | Nabais Sa-de Vries syndrome 1 (NSDVS1) | An autosomal dominant disorder characterized by global developmental delay, impaired intellectual development, speech delay, and variable behavioral abnormalities. Affected individuals show congenital microcephaly and dysmorphic facial features, including round face, small palpebral fissures, highly arched eyebrows, and short nose. The disease is caused by variants affecting the gene represented in this entry. |
| 618829 | OMIM | Nabais Sa-de Vries syndrome 2 (NSDVS2) | An autosomal dominant disorder characterized by global developmental delay apparent from birth, impaired intellectual development, speech delay, dysmorphic facial features, and additional anomalies including congenital heart defects, sleep disturbances, hypotonia, and variable endocrine abnormalities. The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry. |