Rare Disease Library

Mitochondrial DNA-related cardiomyopathy and hearing loss

mtDNA-related cardiomyopathy and deafness · Maternally-inherited cardiomyopathy and deafness

Abruzzo-Erickson syndrome

CHARGE-like syndrome · Cleft palate-coloboma-deafness syndrome

Albinism-deafness syndrome

Albinism-hearing loss syndrome

Autosomal dominant optic atrophy plus syndrome

ADOA+ · DOA+

Cataract-ataxia-deafness syndrome

Cataract-ataxia-hearing loss syndrome

Caudal appendage-deafness syndrome

Caudal appendage-hearing loss syndrome · Lynch-Lee-Murday syndrome

Deafness-craniofacial syndrome

Hearing loss-craniofacial syndrome

DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome

DIAPH1-related sensorineural deafness-thrombocytopenia syndrome

Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome

Cardiogenital syndrome · Malouf syndrome

Kidney tubulopathy-dilated cardiomyopathy syndrome

Leigh syndrome with cardiomyopathy

Cardiomyopathy with hypotonia due to cytochrome C oxidase deficiency · Cardiomyopathy with myopathy due to COX deficiency

Microcephaly-cardiomyopathy syndrome

Winship-Viljoen-Leary syndrome

Mitochondrial myopathy-lactic acidosis-deafness syndrome

Mitochondrial myopathy-lactic acidosis-hearing loss syndrome

Mohr-Tranebjaerg syndrome

DDON syndrome · Deafness-dystonia-optic neuronopathy syndrome

MYH14-related peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome

Peripheral neuropathy-myopathy-hoarseness-deafness syndrome

Nathalie syndrome

Deafness-cataract-skeletal anomalies syndrome · Sensorineural hearing loss-cataract-skeletal anomalies-cardiomyopathy syndrome

Nephropathy-deafness-hyperparathyroidism syndrome

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

Pendred syndrome

Goiter-deafness syndrome · Goiter-hearing loss syndrome

Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome

Progressive neurosensory deafness-hypertrophic cardiomyopathy syndrome · Progressive neurosensory hearing loss-hypertrophic cardiomyopathy syndrome

Sensorineural deafness with dilated cardiomyopathy

Neurosensory deafness with dilated cardiomyopathy · Neurosensory hearing loss with dilated cardiomyopathy

Syndrome associated with dilated cardiomyopathy

Syndrome associated with hypertrophic cardiomyopathy