| Disease ID | Source | Name | Description |
| 301031 | OMIM | Congenital disorder of glycosylation 1CC (CDG1CC) | A form of congenital disorder of glycosylation, a multisystem disorder 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. CDG1CC is an X-linked recessive form mainly characterized by intellectual and developmental disability. The disease is caused by variants affecting the gene represented in this entry. |
| 300853 | OMIM | Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia (XMEN) | A disease characterized by CD4 lymphopenia, severe chronic viral infections, and defective T-lymphocyte activation. The disease is caused by variants affecting the gene represented in this entry. |