Diseases of the eye and adnexa
Autosomal recessive
10q23.31
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 609360.1.1 | Saudi Arabia | Female | Yes | Yes | Developmental cataract Developmental cataract  | NM_001031709.3:c.215_216delinsT | Homozygous | Autosomal, Recessive | Aldahmesh et al. 2012; Patel et al. 2017 | Patient had undergon... |
| 609360.1.2 | Saudi Arabia | Male | Yes | Yes | Developmental cataract Developmental cataract | NM_001031709.3:c.215_216delinsT | Homozygous | Autosomal, Recessive | Aldahmesh et al. 2012; Patel et al. 2017 | Brother of 609360.1.... |
| 609360.1.3 | Saudi Arabia | Male | Yes | Yes | Developmental cataract Developmental cataract | NM_001031709.3:c.215_216delinsT | Homozygous | Autosomal, Recessive | Aldahmesh et al. 2012; Patel et al. 2017 | Brother of 609360.1.... |