Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development | |
| | | Single nucleotide variant (missense variant) | Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development | |
| | | Single nucleotide variant (missense variant) | Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development | |
| | | Single nucleotide variant (missense variant) | Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development | |
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