Official websites use .gov
A
.gov website belongs to an official
government organization in the United States.
Secure .gov websites use HTTPS
A lock (
) or https:// means you've safely
connected to the .gov website. Share sensitive
information only on official, secure websites.
Summary of clinical phenotypes and genotypes
| Case | Cornea globosa | Iris hypoplasia | Uveal cysts | Cataract | Phenotype | Genotype PMEL17ex11 marker |
|---|---|---|---|---|---|---|
| 1 | + | + | ND | + | MCOA | T/T homozygous |
| 2 | − | − | + | − | Cyst | T/C heterozygous |
| 3 | − | ND | ND | + | Possible MCOA | T/T homozygous |
| 4 | + | + | − | + | MCOA | T/T homozygous |
| 5 | + | + | ND | + | MCOA | T/T homozygous |
+, present; −, absent; ND, no data.
MCOA, severe multiple congenital ocular anomalies phenotype; Cyst, mild Cyst phenotype.
Nucleotides: T, thymine; C, cytosine.
