220290.1 | Palestine | Unknown | | | Prelingual sensorineural hearing impairm... | NM_004004.5:c.167del, NM_004004.5:c.235del | Heterozygous | Autosomal, Recessive | Shahin et al. 2002 | |
220290.2 | Palestine | Unknown | | | Prelingual sensorineural hearing impairm... | NM_004004.5:c.229T>C | Homozygous | Autosomal, Recessive | Shahin et al. 2002 | |
220290.3 | Palestine | Unknown | | | Prelingual sensorineural hearing impairm... | NM_004004.5:c.-23+1G>A, NM_004004.5:c.35del | Heterozygous | Autosomal, Recessive | Shahin et al. 2002 | |
220290.4 | Egypt | Unknown | | | Bilateral sensorineural hearing impairme... | NM_004004.5:c.-23+1G>A, NM_004004.5:c.35del | Heterozygous | Autosomal, Recessive | Snoeckx et al. 2005 | |
220290.5 | Egypt | Unknown | | | Bilateral sensorineural hearing impairme... | NM_004004.5:c.35del, NM_004004.5:c.109G>A | Heterozygous | Autosomal, Recessive | Snoeckx et al. 2005 | |
220290.6.1 | Egypt | Unknown | Yes | | Bilateral sensorineural hearing impairme... | NM_004004.5:c.109G>A | Homozygous | Autosomal, Recessive | Snoeckx et al. 2005 | |
220290.6.2 | Egypt | Female | Yes | | Bilateral sensorineural hearing impairme... | NM_004004.5:c.109G>A | Heterozygous | Autosomal, Recessive | Snoeckx et al. 2005 | Sister of 220290.6.1 |
220290.7 | Egypt | Unknown | | | Bilateral sensorineural hearing impairme... | NM_004004.5:c.35del | Heterozygous | Autosomal, Recessive | Snoeckx et al. 2005 | |
220290.8 | Egypt | Unknown | | | Bilateral sensorineural hearing impairme... | NM_004004.6:c.334_335del | Heterozygous | Autosomal, Recessive | Snoeckx et al. 2005 | |
220290.9 | Lebanon | | | | Severe sensorineural hearing impairment | NM_004004.5:c.95G>A, NM_004004.6:c.290dup | Heterozygous | Autosomal, Recessive | Mustapha et al, 2001 | Compound heterozygot... |
220290.11 | United Arab Emirates | | | | Severe sensorineural hearing impairment | NM_004004.6:c.-1G>A | Heterozygous | Autosomal, Recessive | Tlili et al. 2017 | |
220290.G.1 | Jordan | Unknown | | Yes | Prelingual sensorineural hearing impairm... | NM_004004.5:c.35del | Homozygous | Autosomal, Recessive | Medlej-Hashim et al. 2002 | 11 patients from 68 ... |
220290.G.2.1 | Palestine | Unknown | | | Prelingual sensorineural hearing impairm... | NM_004004.5:c.35del | Homozygous | Autosomal, Recessive | Shahin et al. 2002 | Group of 5 patients |
220290.G.2.2 | Palestine | Unknown | | | Prelingual sensorineural hearing impairm... | NM_004004.5:c.167del | Homozygous | Autosomal, Recessive | Shahin et al. 2002 | Group of 3 patients |
220290.G.3.1 | Tunisia | Unknown | | | Prelingual sensorineural hearing impairm... | NM_004004.5:c.35del | Homozygous | Autosomal, Recessive | Masmoudi et al. 2000 | Unknown number of pa... |
220290.G.3.2 | Tunisia | Unknown | | | Prelingual sensorineural hearing impairm... | NM_004004.5:c.139G>T | Homozygous | Autosomal, Recessive | Masmoudi et al. 2000 | Unknown number of pa... |
220290.G.3.3 | Tunisia | Unknown | | | Prelingual sensorineural hearing impairm... | NM_004004.5:c.35del, NM_004004.5:c.139G>T | Heterozygous | Autosomal, Recessive | Masmoudi et al. 2000 | Unknown number of pa... |
220290.G.4.1 | Algeria | Unknown | | | Bilateral sensorineural hearing impairme... | NM_004004.5:c.35del | Homozygous | Autosomal, Recessive | Ammar-Khodja et al. 2009 | Unknown number of pa... |
220290.G.4.2 | Algeria | Unknown | | | Bilateral sensorineural hearing impairme... | NM_004004.5:c.167del | Homozygous | Autosomal, Recessive | Ammar-Khodja et al. 2009 | Unknown number of pa... |
220290.G.4.3 | Algeria | Unknown | | | Bilateral sensorineural hearing impairme... | NM_004004.5:c.-23+1G>A, NM_004004.5:c.35del | Heterozygous | Autosomal, Recessive | Ammar-Khodja et al. 2009 | Unknown number of pa... |
220290.G.4.4 | Algeria | Unknown | | | Bilateral sensorineural hearing impairme... | NM_004004.5:c.35del, NM_004004.5:c.139G>T | Heterozygous | Autosomal, Recessive | Ammar-Khodja et al. 2009 | Unknown number of pa... |
220290.G.4.5 | Algeria | Unknown | | | Bilateral sensorineural hearing impairme... | NM_004004.5:c.109G>A, NM_004004.5:c.617A>G | Heterozygous | Autosomal, Recessive | Ammar-Khodja et al. 2009 | Unknown number of pa... |
220290.G.4.6 | Algeria | Unknown | | | Bilateral sensorineural hearing impairme... | NM_004004.5:c.109G>A | Homozygous | Autosomal, Recessive | Ammar-Khodja et al. 2009 | Unknown number of pa... |
220290.G.4.7 | Algeria | Unknown | | | Bilateral sensorineural hearing impairme... | NM_004004.5:c.35del | Heterozygous | Autosomal, Recessive | Ammar-Khodja et al. 2009 | Unknown number of pa... |
220290.G.4.8 | Algeria | Unknown | | | Bilateral sensorineural hearing impairme... | NM_004004.5:c.-23+1G>A | Heterozygous | Autosomal, Recessive | Ammar-Khodja et al. 2009 | Unknown number of pa... |
220290.G.5.1 | Algeria | Unknown | | | Prelingual sensorineural hearing impairm... | NM_004004.5:c.35del | Heterozygous | Autosomal, Recessive | Denoyelle et al. 1997 | Unknown number of pa... |
220290.G.5.2 | Lebanon | Unknown | | | Prelingual sensorineural hearing impairm... | NM_004004.5:c.35del | Homozygous | Autosomal, Recessive | Denoyelle et al. 1997 | Unknown number of pa... |
220290.G.5.3 | Lebanon | Unknown | Yes | Yes | Prelingual sensorineural hearing impairm... | NM_004004.5:c.35del | Homozygous | Autosomal, Recessive | Denoyelle et al. 1997 | 5 patients from fami... |
220290.G.5.4 | Tunisia | Unknown | Yes | Yes | Prelingual sensorineural hearing impairm... | NM_004004.5:c.35del | Homozygous | Autosomal, Recessive | Denoyelle et al. 1997 | Unknown number of pa... |
220290.G.5.5 | Tunisia | Unknown | Yes | Yes | Prelingual sensorineural hearing impairm... | NM_004004.5:c.139G>T | Homozygous | Autosomal, Recessive | Denoyelle et al. 1997 | 2 patients from fami... |
220290.G.6.1 | Egypt | Unknown | | | Bilateral sensorineural hearing impairme... | NM_004004.5:c.35del | Homozygous | Autosomal, Recessive | Snoeckx et al. 2005 | 10 patients from 10 ... |
220290.G.6.2 | Egypt | Unknown | | | Bilateral sensorineural hearing impairme... | NM_004004.5:c.35del, NM_004004.6:c.334_335del | Heterozygous | Autosomal, Recessive | Snoeckx et al. 2005 | 3 patients from the ... |
220290.G.6.3 | Egypt | Unknown | | | Bilateral sensorineural hearing impairme... | NM_004004.5:c.23C>T, NM_004004.5:c.457G>A | Heterozygous | Autosomal, Recessive | Snoeckx et al. 2005 | Unknown number of pa... |
220290.G.7.1 | Palestine | Unknown | Yes | Yes | Profound hearing impairment | NM_004004.5:c.35del | Homozygous | Autosomal, Recessive | Carrasquillo et al. 1997 | Unknown number of pa... |
220290.G.7.2 | Palestine | Unknown | Yes | Yes | Profound hearing impairment | NM_004004.5:c.229T>C | Homozygous | Autosomal, Recessive | Carrasquillo et al. 1997 | Unknown number of pa... |
220290.G.7.3 | Palestine | Unknown | Yes | Yes | Profound hearing impairment | NM_004004.5:c.35del, NM_004004.5:c.229T>C | Heterozygous | Autosomal, Recessive | Carrasquillo et al. 1997 | Unknown number of co... |
220290.G.8.1 | Lebanon | | | | Severe sensorineural hearing impairment | NM_004004.5:c.35del | Homozygous | Autosomal, Recessive | Mustapha et al, 2001 | 15 families with at ... |
220290.G.9.1 | United Arab Emirates | | | | Severe sensorineural hearing impairment | NM_004004.5:c.35del | Homozygous | Autosomal, Recessive | Tlili et al. 2017; Elsayed O and Al-Shamsi A. 2022 | 6 unrelated patients |
220290.G.9.2 | United Arab Emirates | | | | Severe sensorineural hearing impairment | NM_004004.5:c.35del | Heterozygous | Autosomal, Recessive | Tlili et al. 2017 | 2 unrelated patients |
220290.G.9.3 | United Arab Emirates | | | | Severe sensorineural hearing impairment | NM_004004.5:c.506G>A | Homozygous | Autosomal, Recessive | Tlili et al. 2017 | 3 unrelated patients |
220290.G.9.4 | United Arab Emirates | | | | Severe sensorineural hearing impairment | NM_004004.5:c.438C>T | Heterozygous | Autosomal, Recessive | Tlili et al. 2017 | 2 unrelated patients |
220290.G.10.1 | Lebanon | | | | Hearing impairment | NM_004004.5:c.35del | Homozygous | Autosomal, Recessive | Belguith et al. 2005 | 9 lebanese patients |
220290.G.10.2 | Tunisia | | | | Hearing impairment | NM_004004.5:c.35del | Homozygous | Autosomal, Recessive | Belguith et al. 2005 | 16 Tunisian patients |
220290.G.10.3 | Morocco | | | | Hearing impairment | NM_004004.5:c.35del | Homozygous | Autosomal, Recessive | Belguith et al. 2005 | 6 Moroccan patients |
220290.G.11.1 | United Arab Emirates | | Yes | Yes | Severe hearing impairment; Profound hea... | NM_004004.5:c.506G>A | Homozygous | Autosomal, Recessive | Mahfood et al. 2021 | 3 siblings (2 male, ... |
220290.G.12 | United Arab Emirates | Unknown | | | Congenital sensorineural hearing impairm... | NM_004004.5:c.-23+1G>A | Homozygous | Autosomal, Recessive | Elsayed O and Al-Shamsi A. 2022 | 3 individuals with h... |