Klinische FragestellungNeuropathie, auditorische; Differentialdiagnose

NGS +

ORPHA:90636 Autosomal rezessive nicht-syndromische sensorineurale Taubheit Typ DFNB

ORPHA:90635 Autosomal dominante nicht-syndromische sensorineurale Taubheit Typ DFNA

ORPHA:502318 N. Cochlearis Dysfunktion

• Allelic: Alternating hemiplegia of childhood 2 (ATP1A3)
• Allelic: Behr syndrome (OPA1)
• Allelic: Combined oxidative phosphorylation deficiency 6 (AIFM1)
• Allelic: Cowchock syndrome (AIFM1)
• Allelic: Dystonia-12 (ATP1A3)
• Allelic: Fazio-Londe disease (SLC52A3)
• Allelic: Glaucoma, normal tension, susceptibility to (OPA1)
• Allelic: Hemolytic anemia due to hexokinase deficiency (HK1)
• Allelic: Lewy body dementia, susceptibility to (GBA)
• Allelic: Mitochondrial DNA depletion syndrome 14 [encephalocardiomyopathic type] (OPA1)
• Allelic: Neurodevelopmental disorder with visual defects + brain anomalies (HK1)
• Allelic: Niemann-Pick disease, type D (NPC1)
• Allelic: Optic atrophy 1 (OPA1)
• Allelic: Parkinson disease, late-onset, susceptibility to (GBA)
• Allelic: Retinitis pigmentosa 79 (HK1)
• Allelic: Spondyloepimetaphyseal dysplasia, XL, with hypomyelinating leukodystrophy (AIFM1)
• Allelic; Gaucher disease, perinatal lethal (GBA)
• Auditory neuropathy, AD, 1; AUNA1 (DIAPH3)
• Auditory neuropathy, AR, 1 (OTOF)
• Bart-Pumphrey syndrome, sensorin. hear loss, palmoplan. keratoder., knuckle pads, leukonychia (GJB2)
• Brown-Vialetto-Van Laere syndrome 1 (SLC52A3)
• CAPOS syndrome, Cereb. ataxia, Areflexia, Pes cavus, Optic atrophy + Sensorin. hear. loss (ATP1A3)
• Deafness, AD 3A (GJB2)
• Deafness, AR 108 (ROR1)
• Deafness, AR 1A (GJB2)
• Deafness, AR 59 (PJVK)
• Deafness, AR 9 (OTOF)
• Deafness, XL 5 (AIFM1)
• Friedreich ataxia (FXN)
• Friedreich ataxia with retained reflexes (FXN)
• Gaucher disease, type I, II, III, IIIC (GBA)
• Hystrix-like ichthyosis + deafness (GJB2)
• Keratitis-ichthyosis-deafness syndrome (GJB2)
• Keratoderma, palmoplantar + deafness (GJB2)
• Mohr-Tranebjaerg syndrome (TIMM8A)
• Muckle-Wells syndrome; urticaria, deafness, amyloidosis (NLRP3)
• Neuropathy, hereditary motor + sensory, Russe type (HK1)
• Niemann-Pick disease, type C1 (NPC1)
• Optic atrophy plus syndrome (OPA1)
• Refsum disease (PHYH)
• Vohwinkel syndrome (GJB2)