Links from MedGen
Items: 3
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum | |
| | | Single nucleotide variant (missense variant) | Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum | |
| | | Single nucleotide variant (missense variant) | Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum | |
Click to view in NCBI Gene