Diseases of the eye and adnexa
Autosomal dominant
12q13.3
Mutations in the MIP gene have been found to cause multiple types of cataract, which have been described as 'polymorphic,' progressive punctate lamellar, cortical, anterior and posterior polar, nonprogressive lamellar with sutural opacities, embryonic nuclear, and pulverulent cortical. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 615274.1 | Saudi Arabia | Unknown | Nuclear cataract; Juvenile onset; Microc... Nuclear cataract; Juvenile onset; Microcornea  | NM_012064.4:c.530A>G | Heterozygous | Autosomal, Dominant | Patel et al. 2017 |