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Autosomal recessive nonsyndromic sensorineural deafness type DFNB
73 OMIM references -
54 associated genes
250 connected diseases
No signs/symptoms info
Disease Type of connection
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Usher syndrome type 1
KID syndrome
Pendred syndrome
Usher syndrome type 2
Hidrotic ectodermal dysplasia
Hypotrichosis-deafness syndrome
Keratoderma hereditarium mutilans
Knuckle pads-leuconychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
Palmoplantar keratoderma-deafness syndrome
Porokeratotic eccrine ostial and dermal duct nevus
Otospondylomegaepiphyseal dysplasia
Autosomal recessive deafness-onychodystrophy syndrome
Autosomal recessive intermediate Charcot-Marie-Tooth disease type B
Chudley-McCullough syndrome
Combined oxidative phosphorylation defect type 13
Craniometaphyseal dysplasia
Deafness-infertility syndrome
EAST syndrome
Erythrokeratodermia variabilis
Familial infantile myoclonic epilepsy
Focal epilepsy - intellectual deficit - cerebro-cerebellar malformation
High myopia-sensorineural deafness syndrome
Hypoplastic left heart syndrome
Infantile Bartter syndrome with deafness
Malignant migrating partial seizures of infancy
Neuropathy with hearing impairment
Oculodentodigital dysplasia
Progressive myoclonic epilepsy with dystonia
Progressive sensorineural hearing loss - hypertrophic cardiomyopathy
Stickler syndrome type 3
Syndactyly type 3
Thyroid hypoplasia
Transgrediens et progrediens palmoplantar keratoderma
Weissenbacher- Zweymuller syndrome
Amyotrophic lateral sclerosis
Pulverulent cataract
Catecholaminergic polymorphic ventricular tachycardia
Inflammatory myofibroblastic tumor
Young adult-onset Parkinsonism
Berardinelli-Seip congenital lipodystrophy
Diffuse cutaneous systemic sclerosis
Heritable pulmonary arterial hypertension
Limited cutaneous systemic sclerosis
Childhood-onset nemaline myopathy
Congenital fiber-type disproportion myopathy
Congenital myopathy with excess of thin filaments
Intermediate nemaline myopathy
Severe congenital nemaline myopathy
Typical nemaline myopathy
Hepatocellular carcinoma, childhood-onset
Familial isolated congenital asplenia
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Desmoid tumor
Hypohidrotic ectodermal dysplasia with immunodeficiency
Incontinentia pigmenti
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
Distal 22q11.2 microdeletion syndrome
Estrogen resistance syndrome
Chronic mucocutaneous candidiasis
Translocation renal cell carcinoma
Fibronectin glomerulopathy
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Hypomyelination with brain stem and spinal cord involvement and leg spasticity
Quebec platelet disorder
X-linked non-syndromic intellectual deficit
X-linked distal arthrogryposis multiplex congenita
Acute infantile liver failure-multisystemic involvement syndrome
Familial papillary renal cell carcinoma
Acute promyelocytic leukemia
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Familial advanced sleep-phase syndrome
Cerebral sinovenous thrombosis
Congenital factor II deficiency
Early infantile epileptic encephalopathy
Pelizaeus-Merzbacher-like due to AIMP1 mutation
Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification
Acrodysostosis with multiple hormone resistance
Carney complex
Familial atrial myxoma
Primary pigmented nodular adrenocortical disease
X-linked intellectual deficit, Najm type
Familial cylindromatosis
Familial multiple trichoepithelioma
Auriculocondylar syndrome
Leukocyte adhesion deficiency type I
Coppock-like cataract
Costello syndrome
Linear nevus sebaceus syndrome
Nuclear cataract
Phakomatosis pigmentokeratotica
Posterior polar cataract
Autosomal dominant nonsyndromic intellectual deficit
Cobblestone lissencephaly without muscular or ocular involvement
Familial gastric cancer
Gastric linitis plastica
Intermittent hydrarthrosis
Lennox-Gastaut syndrome
TRAPS syndrome
Zonular cataract
Familial atrial fibrillation
Tetralogy of Fallot
Isolated focal cortical dysplasia type IIb
Tuberous sclerosis
Autoimmune lymphoproliferative syndrome
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
Microcephaly-capillary malformation syndrome
17p13.3 microduplication syndrome
APC-related attenuated familial adenomatous polyposis
Acute fatty liver of pregnancy
Acute megakaryoblastic leukemia without Down syndrome
Adult-onset autosomal dominant leukodystrophy
Aicardi-Goutières syndrome
Atelosteogenesis type I
Atelosteogenesis type III
Autosomal dominant Charcot-Marie-Tooth disease type 2E
Autosomal dominant Emery-Dreifuss muscular dystrophy
Autosomal dominant Larsen syndrome
Autosomal dominant hypohidrotic ectodermal dysplasia
Autosomal dominant progressive external ophthalmoplegia
Autosomal dominant spastic paraplegia type 13
Autosomal recessive cutis laxa type 2B
Autosomal recessive limb-girdle muscular dystrophy type 2B
Autosomal recessive nonsyndromic intellectual deficit
Blackfan-Diamond anemia
Boomerang dysplasia
Burkitt lymphoma
Cenani-Lenz syndrome
Charcot-Marie-Tooth disease type 1F
Chronic intestinal pseudoobstruction
Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy
Congenital myopathy, Paradas type
Congenital short bowel syndrome
Congenital stromal corneal dystrophy
Congenital valvular dysplasia
Dedifferentiated liposarcoma
Distal myopathy with anterior tibial onset
Distal myopathy with posterior leg and anterior hand involvement
Dubowitz syndrome
Ehlers-Danlos syndrome with periventricular heterotopia
Familial adenomatous polyposis due to 5q22.2 microdeletion
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Familial pancreatic carcinoma
Familial prostate cancer
Frontometaphyseal dysplasia
Gardner syndrome
Geroderma osteodysplastica
Giant cell glioblastoma
Glycogen storage disease due to aldolase A deficiency
Gyrate atrophy of choroid and retina
Hereditary breast and ovarian cancer syndrome
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Hereditary spherocytosis
Hypomyelination with atrophy of basal ganglia and cerebellum
Hypotrichosis simplex
Isolated CoQ-cytochrome C reductase deficiency
Isolated NADH-CoQ reductase deficiency
Juvenile autosomal recessive medullary cystic kidney disease
Leigh syndrome with leukodystrophy
Leukoencephalopathy with brain stem and spinal cord involvement - lactate elevation
Lissencephaly due to LIS1 mutation
Lissencephaly due to TUBA1A mutation
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Long chain acyl-CoA dehydrogenase deficiency
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Miller-Dieker syndrome
Mitochondrial trifunctional protein deficiency
Miyoshi myopathy
Muscle filaminopathy
Osteodysplasty, Melnick-Needles type
Otopalatodigital syndrome type 1
Otopalatodigital syndrome type 2
PYCR1-related DeBarsy syndrome
Pelizaeus-Merzbacher-like due to HSPD1 mutation
Periventricular nodular heterotopia
Postsynaptic congenital myasthenic syndromes
Precursor T-cell acute lymphoblastic leukemia
Primary dystonia, DYT4 type
Primary peritoneal carcinoma
Severe early-onset axonal neuropathy due to NEFL deficiency
Spinocerebellar ataxia type 26
Spondylocarpotarsal synostosis
Subcortical band heterotopia
Susceptibility to viral and mycobacterial infections
Terminal osseous dysplasia - pigmentary defects
Treacher-Collins syndrome
Turcot syndrome with polyposis
Well-differentiated liposarcoma
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
Congenital factor XI deficiency
Congenital prekallikrein deficiency
Hereditary thrombophilia due to congenital protein C deficiency
Ichthyosis-hypotrichosis syndrome
X-linked Charcot-Marie-Tooth disease type 1
X-linked progressive cerebellar ataxia
Dubin-Johnson syndrome
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Spinocerebellar ataxia type 14
Achondrogenesis type 2
Autosomal dominant rhegmatogenous retinal detachment
Congenital factor X deficiency
Czech dysplasia, metatarsal type
Familial avascular necrosis of femoral head
Familial thoracic aortic aneurysm and aortic dissection
Hirschsprung disease
Hydrocephalus with stenosis of aqueduct of Sylvius
Kniest dysplasia
Legg-Calvé-Perthes disease
Ligneous conjunctivitis
Loeys-Dietz syndrome type 1
MASA syndrome
Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
Multiple epiphyseal dysplasia, Beighton type
Multiple keratoacanthoma, Ferguson-Smith type
Platyspondylic dysplasia, Torrance type
Spondyloepimetaphyseal dysplasia congenita, Strudwick type
Spondyloepiphyseal dysplasia congenita
Spondylometaphyseal dysplasia, 'corner fracture' type
Spondylometaphyseal dysplasia, Schmidt type
Spondyloperipheral dysplasia - short ulna
Stickler syndrome type 1
X-linked complicated corpus callosum dysgenesis
X-linked complicated spastic paraplegia type 1
Autosomal dominant Charcot-Marie-Tooth disease type 2F
Benign familial epilepsy of childhood with rolandic spikes
Bilateral perisylvian polymicrogyria
Distal hereditary motor neuropathy type 2
Isolated polycystic liver disease
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
Rolandic epilepsy - speech dyspraxia
- Autosomal recessive isolated neurosensory deafness type DFNB
- Autosomal recessive isolated sensorineural deafness type DFNB
- Autosomal recessive nonsyndromic neurosensory deafness type DFNB

Classification (Orphanet):
- Rare genetic disease
- Rare otorhinolaryngologic disease

Classification (ICD10):
- Diseases of the ear and mastoid process -

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
73 OMIM references -
No MeSH references

No signs/symptoms info available.