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CLCNs

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