A rare autosomal dominant association characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects. [From Orphanet]
Diseases of the eye and adnexa
Autosomal dominant
10q23.31
A rare autosomal dominant association characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects. [From Orphanet]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 612018.1 | Saudi Arabia | Unknown | Developmental cataract Developmental cataract  | NM_213606.4:c.404C>T | Heterozygous | Autosomal, Recessive | Patel et al. 2017 |