Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant +1 more) | Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia | |
| | EXOC2, LOC126859547 (L580S) | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia | |
| | | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia | |
| | | Single nucleotide variant (nonsense +1 more) | Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia | |
Click to view in NCBI Gene