| Disease ID | Source | Name | Description |
| 301041 | OMIM | Wieacker-Wolff syndrome, female-restricted (WRWFFR) | An X-linked dominant neurodevelopmental disorder affecting the central and peripheral nervous systems. It is characterized by onset of muscle weakness in utero resulting in fetal akinesia, arthrogryposis multiplex congenita and diffuse contractures apparent at birth, global developmental delay with difficulty walking or inability to walk, hypotonia, variably impaired intellectual development, poor or absent speech and language, and dysmorphic features. The disease is caused by variants affecting the gene represented in this entry. |
| 314580 | OMIM | Wieacker-Wolf syndrome (WRWF) | A severe X-linked recessive neurodevelopmental disorder affecting the central and peripheral nervous systems. It is characterized by onset of muscle weakness in utero (fetal akinesia). Affected boys are born with severe contractures, known as arthrogryposis, and have delayed motor development, facial and bulbar weakness, characteristic dysmorphic facial features, and skeletal abnormalities, such as hip dislocation, scoliosis, and pes equinovarus. Those that survive infancy show mental retardation. Carrier females may have mild features of the disorder. The disease is caused by variants affecting the gene represented in this entry. |