| Disease ID | Source | Name | Description |
| 305450 | OMIM | Opitz-Kaveggia syndrome (OKS) | X-linked disorder characterized by mental retardation, relative macrocephaly, hypotonia and constipation. The disease is caused by variants affecting the gene represented in this entry. |
| 309520 | OMIM | Intellectual developmental disorder, X-linked, syndromic, Lujan-Fryns type (MRXSLF) | A disorder characterized by tall stature with asthenic habitus, macrocephaly, a tall narrow face, maxillary hypoplasia, a high narrow palate with dental crowding, a small or receding chin, long hands with hyperextensible digits, hypernasal speech, hypotonia, mild-to-moderate mental retardation, behavioral aberrations and dysgenesis of the corpus callosum. The disease is caused by variants affecting the gene represented in this entry. |
| 300895 | OMIM | Ohdo syndrome, X-linked (OHDOX) | A syndrome characterized by mental retardation, feeding problems, and distinctive facial appearance with coarse facial features, severe blepharophimosis, ptosis, a bulbous nose, micrognathia and a small mouth. Dental hypoplasia and deafness can be considered as common manifestations of the syndrome. Male patients show cryptorchidism and scrotal hypoplasia. The disease is caused by variants affecting the gene represented in this entry. |