Links from MedGen
Items: 10
| Variation | | Type (Consequence) | Condition | Classification, Review status |
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| | | Single nucleotide variant (missense variant) | Short stature with microcephaly and distinctive facies | |
| | | Deletion | Short stature with microcephaly and distinctive facies | |
| | | Microsatellite (frameshift variant) | Short stature with microcephaly and distinctive facies | |
| | | Single nucleotide variant (intron variant) | Short stature with microcephaly and distinctive facies | |
| | | Deletion (frameshift variant) | Short stature with microcephaly and distinctive facies | |
| | | Copy number loss | Short stature with microcephaly and distinctive facies | |
| | | Deletion | Short stature with microcephaly and distinctive facies | |
| | | Single nucleotide variant (missense variant) | Short stature with microcephaly and distinctive facies | |
| | | Deletion (frameshift variant) | Short stature with microcephaly and distinctive facies +1 more | |
| | | Insertion (frameshift variant) | Short stature with microcephaly and distinctive facies +1 more | |
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