Links from MedGen
Items: 10
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with alopecia and brain abnormalities | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with alopecia and brain abnormalities | |
| | | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental disorder with alopecia and brain abnormalities | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with alopecia and brain abnormalities | |
| | | Single nucleotide variant (nonsense) | Neurodevelopmental disorder with alopecia and brain abnormalities | |
| | | Deletion | Neurodevelopmental disorder with alopecia and brain abnormalities | |
| | | Single nucleotide variant (nonsense) | Neurodevelopmental disorder with alopecia and brain abnormalities | |
| | | Duplication (frameshift variant) | Neurodevelopmental disorder with alopecia and brain abnormalities | |
| | | Single nucleotide variant (splice donor variant) | Neurodevelopmental disorder with alopecia and brain abnormalities | |
| | | Deletion (frameshift variant) | Neurodevelopmental disorder with alopecia and brain abnormalities | |
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