Members
CLCN1 | CLCN2 | CLCN3 | CLCN4 | CLCN5 | CLCN6 | CLCN7 |
Pathology
CLCN1 | autosomal recessive generalized myotonia congenita (Becker disease) | MIM.255700 |
CLCN1 | autosomal dominant generalized myotonia congenita (Becker disease) | MIM.160800 |
CLCN1 | myotonia levior | MIM.160800 |
CLCN2 | epilepsy with grand mal seizures on awakening (EMGA) | MIM.607628 |
CLCN2 | juvenile absence epilepsy | MIM.607631 |
CLCN5 | Dent disease locus 1 | MIM.300009 |
CLCN5 | X-linked recessive nephrolithiasis | MIM.310468 |
CLCN5 | X-linked recessive hypophosphatemic rickets | MIM.300554 |
CLCN5 | low molecular weight proteinuria associated with hypercalciuria and nephrocalcinosis | MIM.308990 |
CLCN7 | autosomal recessive infantile malignant osteopetrosis 4 (OPTB4) | MIM.611490 |
CLCN7 | autosomal dominant infantile malignant osteopetrosis 2 (OPTA2) | MIM.166600 |