Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (non-coding transcript variant) | Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language | |
| | | Insertion (non-coding transcript variant) | Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language | |
| | | Single nucleotide variant (non-coding transcript variant) | Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language | |
| | | Single nucleotide variant (non-coding transcript variant) | Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language | |
| | | Insertion (non-coding transcript variant) | Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language +2 more | |
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