[…] hypercalciuric nephrocalcinosis 308990 CLCN7 16p13.3 Osteopetrosis, autosomal dominant 2 166600 Osteopetrosis, autosomal recessive 4 611490 CLDN1 3q28 Ichthyosis, leukocyte vacuoles
[institutobernabeu.com]
[…] dominant SQSTM1 5q35.3 Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset 617145 601530 Autosomal recessive SQSTM1 5q35.3 Myopathy, distal, with rimmed vacuoles
[mnglabs.com]
Bartter syndrome, type 4, digenic, 602522 (3) CLDN1 G:603718 Bell>cutaneous Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, 607626 (3) CLDN11 G:601326
[usegalaxy.org]