Disease ID | Source | Name | Description |
615829 | OMIM | Xia-Gibbs syndrome (XIGIS) | An autosomal dominant disorder characterized by intellectual disability, mild dysmorphism, hypotonia, delayed psychomotor development with absent or poor expressive language, hypoplasia of the corpus callosum, simplified gyral pattern, and delayed myelination. The disease is caused by variants affecting the gene represented in this entry. |