Autosomal recessive nonsyndromic hearing loss 12- MedGen UID:
- 330455
- •Concept ID:
- C1832394
- •
- Disease or Syndrome
A genetic condition inherited in an autosomal recessive caused by mutation(s) in the CDH23 gene, encoding cadherin-23, characterized by progressive sensorineural hearing loss. Mutation(s) in the CDH23 gene may also cause Usher syndrome 1D.
Autosomal recessive nonsyndromic hearing loss 39- MedGen UID:
- 374909
- •Concept ID:
- C1842342
- •
- Disease or Syndrome
An autosomal recessive disorder caused by mutations in the HGF gene, encoding hepatocyte growth factor. It is characterized by profound deafness.
Autosomal recessive nonsyndromic hearing loss 40- MedGen UID:
- 334053
- •Concept ID:
- C1842345
- •
- Disease or Syndrome
An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 22q11.21-q12.1.
Autosomal recessive nonsyndromic hearing loss 38- MedGen UID:
- 330838
- •Concept ID:
- C1842381
- •
- Disease or Syndrome
An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 6q26-q27.
Autosomal recessive nonsyndromic hearing loss 44- MedGen UID:
- 341854
- •Concept ID:
- C1857809
- •
- Disease or Syndrome
Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ADCY1 gene.
Autosomal recessive nonsyndromic hearing loss 49- MedGen UID:
- 346670
- •Concept ID:
- C1857811
- •
- Disease or Syndrome
Autosomal recessive deafness-49 (DFNB49) is characterized by prelingual profound sensorineural hearing loss at all frequencies (Riazuddin et al., 2006 and Chishti et al., 2008).
Autosomal recessive nonsyndromic hearing loss 62- MedGen UID:
- 387916
- •Concept ID:
- C1857820
- •
- Disease or Syndrome
An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 12p13.2-p11.23.
Autosomal recessive nonsyndromic hearing loss 15- MedGen UID:
- 355626
- •Concept ID:
- C1866094
- •
- Disease or Syndrome
This form of autosomal recessive deafness is sensorineural and nonsyndromic, and shows prelingual onset (summary by Charizopoulou et al., 2011).
Autosomal recessive nonsyndromic hearing loss 71- MedGen UID:
- 411609
- •Concept ID:
- C2748554
- •
- Disease or Syndrome
An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 8p22-p21.3.
Autosomal recessive nonsyndromic hearing loss 85- MedGen UID:
- 463629
- •Concept ID:
- C3160740
- •
- Disease or Syndrome
An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 17p12-q11.2.
Autosomal recessive nonsyndromic hearing loss 45- MedGen UID:
- 854732
- •Concept ID:
- C3888030
- •
- Disease or Syndrome
An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 1q43-q44.
Autosomal recessive nonsyndromic hearing loss 83- MedGen UID:
- 854856
- •Concept ID:
- C3888310
- •
- Disease or Syndrome
An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 9p23-p21.2.
Autosomal recessive nonsyndromic hearing loss 104- MedGen UID:
- 899775
- •Concept ID:
- C4225298
- •
- Disease or Syndrome
Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the RIPOR2 gene.
Usher syndrome, type 1M- MedGen UID:
- 1684669
- •Concept ID:
- C5231434
- •
- Disease or Syndrome
Usher syndrome type 1M (USH1M) is characterized by prelingual sensorineural hearing loss, vestibular dysfunction, and retinitis pigmentosa (Ahmed et al., 2018).
For a general phenotypic description and discussion of genetic heterogeneity of Usher syndrome, see USH1 (276900).