Links from MedGen
Items: 8
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant) | Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies | |
| | | Single nucleotide variant (intron variant) | Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies | |
| | | Single nucleotide variant (synonymous variant +1 more) | Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies | |
| | | Single nucleotide variant (intron variant) | Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies | |
| | | Single nucleotide variant (intron variant) | Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies | |
| | | Single nucleotide variant (intron variant) | Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies | |
| | | Duplication (frameshift variant +1 more) | Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies | |
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