Rare diseases · Sign or symptom
Sensorineural hearing impairment
HP:0000407
What it means
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII, also known as the cochlear nerve).
Rare diseases that can present with this318
Very common80–99%
80- 6q25.2q25.3microdeletion syndrome
- 8q12microduplication syndrome
- Adult Refsum disease
- Albinism-deafness syndrome
- Arthrogryposis-like hand anomaly-sensorineural deafness syndrome
- Ataxia-deafness-intellectual disability syndrome
- Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
- Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome
- Autosomal dominant otospondylomegaepiphyseal dysplasia
- Autosomal recessive hypophosphatemic rickets
- Autosomal recessive otospondylomegaepiphyseal dysplasia
- Autosomal recessive Stickler syndrome
- Björnstad syndrome
- Branchiogenic deafness syndrome
- Cataract-ataxia-deafness syndrome
- Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
- Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
- Charcot-Marie-Tooth disease type 1E
- CINCA syndrome
- Congenital rubella syndrome
- Corneal dystrophy-perceptive deafness syndrome
- Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
- Craniofacial-deafness-hand syndrome
- Deaf blind hypopigmentation syndrome, Yemenite type
- Deafness-craniofacial syndrome
- Deafness-enamel hypoplasia-nail defects syndrome
- Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome
- Deafness-infertility syndrome
- Deafness-intellectual disability syndrome, Martin-Probst type
- Deafness-oligodontia syndrome
- Deafness-small bowel diverticulosis-neuropathy syndrome
- Deafness-vitiligo-achalasia syndrome
- Deafness with labyrinthine aplasia, microtia, and microdontia
- Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome
- Developmental malformations-deafness-dystonia syndrome
- Distal deletion 19p syndrome
- Donnai-Barrow syndrome
- EAST syndrome
- Ectodermal dysplasia-sensorineural deafness syndrome
- Epiphyseal dysplasia-hearing loss-dysmorphism syndrome
- Ermine phenotype
- Fetal iodine syndrome
- Fountain syndrome
- GATA2 deficiency spectrum
- Gemignani syndrome
- Gingival fibromatosis-progressive deafness syndrome
- Growth delay due to insulin-like growth factor type 1 deficiency
- Hearing loss-familial salivary gland insensitivity to aldosterone syndrome
- Histidinuria-renal tubular defect syndrome
- Infantile multisystem neurologic-endocrine-pancreatic disease
- Isolated complex I deficiency
- Keipert syndrome
- Keratoderma hereditarium mutilans
- Krabbe disease
- Lipodystrophy-intellectual disability-deafness syndrome
- Madras motor neuron disease
- Marshall syndrome
- MEGDEL syndrome
- MERRF
- Microcephaly-deafness-intellectual disability syndrome
- Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
- Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
- Mitochondrial DNA-related cardiomyopathy and hearing loss
- Mitochondrial myopathy-lactic acidosis-deafness syndrome
- Nathalie syndrome
- Neonatal adrenoleukodystrophy
- Nephropathy-deafness-hyperparathyroidism syndrome
- Neutropenia-monocytopenia-deafness syndrome
- Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome
- Noonan syndrome with multiple lentigines
- Ocular albinism with late-onset sensorineural deafness
- Palmoplantar keratoderma-deafness syndrome
- Pendred syndrome
- Peroxisomal acyl-CoA oxidase deficiency
- Perrault syndrome
- Phosphoribosylpyrophosphate synthetase superactivity
- Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome
- Renal caliceal diverticuli-deafness syndrome
- Retinitis pigmentosa
- Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions, and Orphanet separately records 3 diseases where this sign is specifically absent. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Hearing loss, sensorineural · Sensorineural deafness · Sensorineural hearing loss
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.