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

Deafness-small bowel diverticulosis-neuropathy syndrome

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

Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome

Early-onset progressive encephalopathy-brain atrophy-spasticity syndrome · PEBAS

Gingival fibromatosis-progressive deafness syndrome

Jones syndrome · Gingival fibromatosis-progressive hearing loss syndrome

Hereditary sensory neuropathy-deafness-dementia syndrome

HSN1E · HSAN1E

Mitochondrial DNA-related cardiomyopathy and hearing loss

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

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

OBSOLETE: Neurosensory deafness-pituitary dwarfism syndrome

OBSOLETE: Neurosensory hearing loss-pituitary dwarfism syndrome · OBSOLETE: Winkelmann-Bethge-Pfeiffer syndrome

Progressive autosomal recessive ataxia-deafness syndrome

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

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

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

Sensorineural deafness with dilated cardiomyopathy

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

Syndrome associated with hypertrophic cardiomyopathy