Links from MedGen
Items: 8
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant) | Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities | |
| | | Microsatellite (frameshift variant +1 more) | Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities | |
| | | Single nucleotide variant (nonsense +1 more) | Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities +1 more | |
| | | Indel | Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities | |
| | | Single nucleotide variant (nonsense +1 more) | Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities | |
| | | Microsatellite (inframe_deletion +1 more) | not provided | |
| | | Insertion (frameshift variant +1 more) | Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities | |
| | | Deletion (splice acceptor variant +2 more) | Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities | |
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