| Disease ID | Source | Name | Description |
| 309590 | OMIM | Mental retardation, X-linked, syndromic, Turner type (MRXST) | An X-linked neurodevelopmental disorder with highly variable clinical manifestations. Common features consist of moderate to profound intellectual disability, delayed or absent speech, short stature with small hands and feet, and non-specific but recurrent dysmorphic facial features such as macrocephaly, microcephaly, a broad nasal tip, deep set eyes, epicanthic folds, short palpebral fissures and a short philtrum. Patients may manifest other features, such as hypotonia, seizures and delayed bone age. The disease is caused by variants affecting the gene represented in this entry. |