Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | |
| | | Copy number loss | Impulsivity +4 more | |
| | | Single nucleotide variant (splice donor variant) | EMG: axonal abnormality +15 more | |
| | | Indel (intron variant) | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome +14 more | |
Click to view in NCBI Gene