Non-syndromal sensorineural hearing impairment in humans is genetically heterogeneous showing autosomal recessive, autosomal dominant, X-linked or mitochondrial modes of transmission. DFNB9 is caused by mutations in the OTOF gene.
Diseases of the ear and mastoid process
Other disorders of ear
Autosomal recessive
2p23-p22
Non-syndromal sensorineural hearing impairment in humans is genetically heterogeneous showing autosomal recessive, autosomal dominant, X-linked or mitochondrial modes of transmission. DFNB9 is caused by mutations in the OTOF gene.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 601071.1.1 | Lebanon | Male | Yes | Yes | Prelingual sensorineural hearing impairm... Prelingual sensorineural hearing impairment; Profound sensorineural hearing impairment  | NM_194248.2:c.4491T>A | Homozygous | Autosomal, Recessive | Chaib et al. 1996; Yasunaga et al. 1999 | |
| 601071.1.2 | Lebanon | Female | Yes | Yes | Prelingual sensorineural hearing impairm... Prelingual sensorineural hearing impairment; Profound sensorineural hearing impairment | NM_194248.2:c.4491T>A | Homozygous | Autosomal, Recessive | Chaib et al. 1996; Yasunaga et al. 1999 | Sibling of 601071.1.... |
| 601071.1.3 | Lebanon | Female | Yes | Yes | Prelingual sensorineural hearing impairm... Prelingual sensorineural hearing impairment; Profound sensorineural hearing impairment | NM_194248.2:c.4491T>A | Homozygous | Autosomal, Recessive | Chaib et al. 1996; Yasunaga et al. 1999 | Sibling of 601071.1.... |
| 601071.1.4 | Lebanon | Female | Yes | Yes | Prelingual sensorineural hearing impairm... Prelingual sensorineural hearing impairment; Profound sensorineural hearing impairment | NM_194248.2:c.4491T>A | Homozygous | Autosomal, Recessive | Chaib et al. 1996; Yasunaga et al. 1999 | Sibling of 601071.1.... |
| 601071.1.5 | Lebanon | Female | Yes | Yes | Prelingual sensorineural hearing impairm... Prelingual sensorineural hearing impairment; Profound sensorineural hearing impairment | NM_194248.2:c.4491T>A | Homozygous | Autosomal, Recessive | Chaib et al. 1996; Yasunaga et al. 1999 | Second cousin of 601... |
| 601071.1.6 | Lebanon | Female | Yes | Yes | Prelingual sensorineural hearing impairm... Prelingual sensorineural hearing impairment; Profound sensorineural hearing impairment | NM_194248.2:c.4491T>A | Homozygous | Autosomal, Recessive | Chaib et al. 1996; Yasunaga et al. 1999 | First cousin of 6010... |
| 601071.1.7 | Lebanon | Male | Yes | Yes | Prelingual sensorineural hearing impairm... Prelingual sensorineural hearing impairment; Profound sensorineural hearing impairment | NM_194248.2:c.4491T>A | Homozygous | Autosomal, Recessive | Chaib et al. 1996; Yasunaga et al. 1999 | Sibling of 601071.1.... |
| 601071.1.8 | Lebanon | Female | Yes | Yes | Prelingual sensorineural hearing impairm... Prelingual sensorineural hearing impairment; Profound sensorineural hearing impairment | NM_194248.2:c.4491T>A | Homozygous | Autosomal, Recessive | Chaib et al. 1996; Yasunaga et al. 1999 | First cousin of 6010... |
| 601071.1.9 | Lebanon | Female | Yes | Yes | Prelingual sensorineural hearing impairm... Prelingual sensorineural hearing impairment; Profound sensorineural hearing impairment | NM_194248.2:c.4491T>A | Homozygous | Autosomal, Recessive | Chaib et al. 1996; Yasunaga et al. 1999 | Sibling of 601071.1.... |
| 601071.1.10 | Lebanon | Male | Yes | Yes | Prelingual sensorineural hearing impairm... Prelingual sensorineural hearing impairment; Profound sensorineural hearing impairment | NM_194248.2:c.4491T>A | Homozygous | Autosomal, Recessive | Chaib et al. 1996; Yasunaga et al. 1999 | Sibling of 601071.1.... |