Diseases of the eye and adnexa
Autosomal recessive
1q41
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 604903.1 | Saudi Arabia | Unknown | No | Developmental cataract; Global developme... Developmental cataract; Global developmental delay  | NM_001201536.1:c.40_41del | Homozygous | Autosomal, Recessive | Patel et al. 2017 |