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+

Bartter syndrome type 4

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

Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome

Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural deafness syndrome · CAPOS syndrome

Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome

Sengers syndrome

Crandall syndrome

Alopecia-deafness-hypogonadism syndrome · Alopecia-sensorineural deafness-hypogonadism syndrome

Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome

Cardiogenital syndrome · Malouf syndrome

EAST syndrome

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

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

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

Non-familial hypertrophic cardiomyopathy

Progressive autosomal recessive ataxia-deafness syndrome

Lichtenstein-Knorr syndrome · Progressive autosomal recessive ataxia-sensorineural hearing loss syndrome

Rare hypertrophic cardiomyopathy

Sensorineural deafness with dilated cardiomyopathy

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

Syndrome associated with hypertrophic cardiomyopathy

Syndromic sensorineural deafness due to combined oxidative phosphorylation defect

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