Category | Gene | Protein/Syndrome Disease | Inheritance | OMIM # |
---|---|---|---|---|
Kenny-Chaffey syndrome type 2 | FAM111A | FAM111A | AD | 615292 |
Autosomal dominant hypomagnesemia/episodic ataxia type 1 | KCNA1 | Kv1.1 | AD | 176260 |
Hypomagnesemia with seizures and mental retardation | CNNM2 | CNNM2 | AD/AR | 607803 |
Neonatal inflammatory skin and bowel disease type 2 | EGFR | EGFR | AR | 131550, 616069 |
Isolated recessive hypomagnesemia | EGF | EGF | AR | 131530, 611718 |
Hypomagnesemia with secondary hypocalcemia | TRPM6 | TRPM6 | AR | 607009 |