Rare Disease Library

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

Peripheral neuropathy-myopathy-hoarseness-deafness syndrome

Acquired peripheral neuropathy

Autosomal dominant optic atrophy plus syndrome

ADOA+ · DOA+

Cervical hypertrichosis-peripheral neuropathy syndrome

Deafness-small bowel diverticulosis-neuropathy syndrome

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

Hereditary sensory neuropathy-deafness-dementia syndrome

HSN1E · HSAN1E

High myopia-sensorineural deafness syndrome

High myopia-sensorineural hearing loss syndrome

Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome

PLAAT3-related lipodystrophy syndrome

MEDNIK syndrome

Intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome · Intellectual disability-enteropathy-hearing loss-peripheral neuropathy-ichthyosis-keratodermia syndrome

MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect

Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome · Leigh-like encephalopathy-optic atrophy-peripheral neuropathy syndrome

Mitochondrial myopathy-lactic acidosis-deafness syndrome

Mitochondrial myopathy-lactic acidosis-hearing loss syndrome

Mohr-Tranebjaerg syndrome

DDON syndrome · Deafness-dystonia-optic neuronopathy syndrome

Nephropathy-deafness-hyperparathyroidism syndrome

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

OBSOLETE: Deafness-peripheral neuropathy-arterial disease syndrome

Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome

Peripheral motor neuropathy-dysautonomia syndrome

Lisker-Garcia-Ramos syndrome

Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome

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