Rare Disease Library

Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome

Feigenbaum-Bergeron-Richardson syndrome · Atherosclerosis-hearing loss-diabetes-epilepsy-nephropathy syndrome

Alport syndrome

Alport hearing loss-nephropathy · Alport deafness-nephropathy

Deafness-small bowel diverticulosis-neuropathy syndrome

Hearing loss-small bowel diverticulosis-neuropathy syndrome · Groll-Hirschowitz syndrome

EAST syndrome

Epilepsy-ataxia-sensorineural hearing loss-tubulopathy syndrome · SeSAME syndrome

Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency

Ehlers-Danlos syndrome with kyphoscoliosis, myopathy, and hearing loss · FKBP22-deficient EDS

Mohr-Tranebjaerg syndrome

DDON syndrome · Deafness-dystonia-optic neuronopathy syndrome

Nephropathy-deafness-hyperparathyroidism syndrome

Edwards-Patton-Dilly syndrome · Nephropathy-hearing loss-hyperparathyroidism syndrome

Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome

Epidermolysis bullosa simplex with nephropathy · Nephrotic syndrome-hearing loss-epidermolysis bullosa syndrome

Wolfram syndrome

Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-hearing loss syndrome · DIDMOAD syndrome