Rare Disease Library

Sensorineural deafness with dilated cardiomyopathy

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

Bartter syndrome type 4

Bartter syndrome with sensorineural hearing loss · Bartter syndrome with sensorineural deafness

Congenital disorder of glycosylation with dilated cardiomyopathy

CDG with dilated cardiomyopathy

DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome

DIAPH1-related sensorineural deafness-thrombocytopenia syndrome

Dilated cardiomyopathy

Dilated cardiomyopathy with ataxia

3-methylglutaconic aciduria type 5 · DCMA syndrome

EAST syndrome

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

Familial dilated cardiomyopathy

Familial isolated dilated cardiomyopathy

Familial or idiopathic dilated cardiomyopathy

Hereditary sensory and autonomic neuropathy with deafness and global delay

HSAN with deafness and global delay · HSAN with hearing loss and global delay

Hereditary sensory neuropathy-deafness-dementia syndrome

HSN1E · HSAN1E

High myopia-sensorineural deafness syndrome

High myopia-sensorineural hearing loss syndrome

Hypoparathyroidism-sensorineural deafness-renal disease syndrome

Hypoparathyroidism-sensorineural hearing loss-renal disease syndrome · Barakat syndrome

Isolated atrial standstill

Isolated atrial cardiomyopathy with heart block

Mitochondrial disease with dilated cardiomyopathy

Mitochondrial DNA-related cardiomyopathy and hearing loss

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

Nathalie syndrome

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

Neuromuscular disease with dilated cardiomyopathy

Non-familial dilated cardiomyopathy

Non-familial rare disease with dilated cardiomyopathy

Ocular albinism with congenital sensorineural deafness

Waardenburg syndrome type 2 with ocular albinism · Ocular albinism with congenital sensorineural hearing loss

Ocular albinism with late-onset sensorineural deafness

Ocular albinism with late-onset sensorineural hearing loss

Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome

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

Rare autosomal dominant non-syndromic sensorineural deafness type DFNA

Autosomal dominant isolated neurosensory deafness type DFNA · Autosomal dominant isolated neurosensory hearing loss type DFNA

Rare autosomal recessive non-syndromic sensorineural deafness type DFNB

Autosomal recessive isolated neurosensory hearing loss type DFNB · Autosomal recessive isolated neurosensory deafness type DFNB

Rare mitochondrial non-syndromic sensorineural deafness

Isolated mitochondrial neurosensory deafness · Isolated mitochondrial sensorineural deafness

Rare X-linked non-syndromic sensorineural deafness type DFN

X-linked isolated neurosensory deafness type DFN · X-linked isolated neurosensory hearing loss type DFN

Reticular dysgenesis

AK2 deficiency · De Vaal disease

Severe dilated cardiomyopathy due to lamin A/C mutation

Severe dilated cardiomyopathy with or without myopathy

Sudden sensorineural hearing loss

Secondary acute sensorineural hearing loss

Syndrome associated with dilated cardiomyopathy

Syndromic sensorineural deafness due to combined oxidative phosphorylation defect

Syndromic sensorineural hearing loss due to COXPD · Syndromic sensorineural deafness due to COXPD

Townes-Brocks syndrome

Sensorineural hearing loss with imperforate anus and hypoplastic thumbs · REAR syndrome

X-linked hereditary sensory and autonomic neuropathy with deafness

X-linked HSAN with deafness · X-linked auditory neuropathy with peripheral sensory neuropathy type 1

X-linked mixed deafness with perilymphatic gusher

Conductive deafness with stapes fixation · DFNX2