Disease ID | Source | Name | Description |
211380 | OMIM | Elsahy-Waters syndrome (ESWS) | An autosomal recessive syndrome characterized by moderate mental retardation, hypospadias and characteristic craniofacial morphology, which includes brachycephaly, facial asymmetry, exotropia, hypertelorism, telechantus, broad nose, concave nasal ridge, underdeveloped mid-face, prognathism, and radicular dentin dysplasia. The disease is caused by variants affecting the gene represented in this entry. |