GJB2
MIM.121011
Pathology
GJB2 mutations in
- sensorineural deafness
- type I autosomal recessive neurosensory deafness (DFNB1) (MIM.220290)
- autosomal dominant deafness (DFNA3) (MIM.601544)
- cutaneous disorders-deafness association
- autosomal dominant keratitis-ichtyosis-deafness syndrome (MIM.148210)
- palmoplantar keratoderma with deafness (MIM.148350)
- Bart-Pumphrey syndrome
- cutaneous disorders
- hystrix-like ichthyosis (MIM.602540)
- mutilating keratoderma with ichthyosis (Vohwinkel syndrome with ichtyosis)(MIM.604117)
- follicular occlusion triad
- dissecting folliculitis of the scalp
- hidradenitis suppurativa
- cystic acne