Autosomal recessive nonsyndromic hearing loss 12- MedGen UID:
- 330455
- •Concept ID:
- C1832394
- •
- Disease or Syndrome
An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in mutation in the CDH23 gene on chromosome 10q22.
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).