Deafness: genetic causes
Evidence-based neurology checklist on deafness: genetic causes: Genetic causes of deafness Absent cochlear nerves: with MASP1 gene mutations Alport syndrome Mitochondrial disorders Mohr-Tranebjaerg syndrome (MTS) Mucopolysaccharidoses Neurofibromatosis type 2 (NF2) Pendred syndrome Refsum's…
Genetic causes of deafness
- Absent cochlear nerves: with MASP1 gene mutations
- Alport syndrome
- Mitochondrial disorders
- Mohr-Tranebjaerg syndrome (MTS)
- Mucopolysaccharidoses
- Neurofibromatosis type 2 (NF2)
- Pendred syndrome
- Refsum's disease
- Treacher Collins syndrome
- Usher syndrome
- Waardenburg syndrome
- Woodhouse Sakati syndrome
References
- Overell J, Lindahl A. Neuro-otological syndromes for the neurologist. JNNP 2004; 75(Suppl IV):iv53-iv59.
- Ha AD, Parratt KL, Rendtorff ND, et al. The phenotypic spectrum of dystonia in Mohr-Tranebjaerg syndrome. Mov Disord 2012; 27:1034-1040.
- Kojovic M, Pareés I, Lampreia T, et al. The syndrome of deafness-dystonia: clinical and genetic heterogeneity. Mov Disord 2013; 28:795-803.
- Kari E, Schrauwen I, Llaci L, et al. Compound heterozygous mutations in MASP1 in a deaf child with absent cochlear nerves. Neurol Genet 2017; 3:e153.
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