DFNB68 is characterised by hearing loss with/without limb anomalies. It is associated with homozygous mutation in the S1PR2 gene.
Diseases of the ear and mastoid process
Other disorders of ear
Autosomal recessive
19p13.2
DFNB68 is characterised by hearing loss with/without limb anomalies. It is associated with homozygous mutation in the S1PR2 gene.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 610419.1 | United Arab Emirates | Unknown | Hearing impairment Hearing impairment  | NM_004230.4:c.985C>T | Heterozygous | Tlili et al. 2024 |