Rare Disease Library

Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome

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

Agammaglobulinemia-early-onset hypertrophic cardiomyopathy-neutropenia syndrome

Syndromic agammaglobulinemia due to FNIP1 deficiency · Syndromic hypogammaglobulinemia due to FNIP1 deficiency

Autosomal dominant optic atrophy plus syndrome

ADOA+ · DOA+

Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome

Sengers syndrome

Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome

Cardiogenital syndrome · Malouf syndrome

Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome

Glycogen storage disease with hypertrophic cardiomyopathy

GSD with hypertrophic cardiomyopathy · Glycogenosis with hypertrophic cardiomyopathy

Hereditary sensory neuropathy-deafness-dementia syndrome

HSN1E · HSAN1E

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

Peripheral neuropathy-myopathy-hoarseness-deafness syndrome

Nephropathy-deafness-hyperparathyroidism syndrome

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

Non-familial hypertrophic cardiomyopathy

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 hypertrophic cardiomyopathy

Sensorineural deafness with dilated cardiomyopathy

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

Syndrome associated with hypertrophic cardiomyopathy