| Disease ID | Source | Name | Description |
| 300423 | OMIM | Mental retardation, X-linked, with epilepsy (MRXE) | A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXE patients manifest mild to moderate mental retardation associated with epilepsy, delays in motor milestones and speech acquisition in infancy. The disease is caused by variants affecting the gene represented in this entry. |
| 300911 | OMIM | Parkinsonism with spasticity, X-linked (XPDS) | A syndrome characterized by parkinsonian features, such as cogwheel rigidity, resting tremor and bradykinesia, and variably penetrant spasticity. The disease is caused by variants affecting the gene represented in this entry. |
| 301045 | OMIM | Congenital disorder of glycosylation 2R (CDG2R) | A form of congenital disorder of glycosylation, a genetically heterogeneous group of multisystem disorders caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG2R is an X-linked recessive disorder characterized by infantile onset of liver failure, recurrent infections due to hypogammaglobulinemia, and cutis laxa. Some patients may also have mild intellectual impairment and dysmorphic features. The disease is caused by variants affecting the gene represented in this entry. |