Links from MedGen
Items: 10
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures | |
| | | Duplication (frameshift variant) | Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures | |
| | | Single nucleotide variant (splice donor variant) | Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures | |
| | | Deletion (inframe_deletion) | Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures | |
| | | Microsatellite (frameshift variant) | Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Microsatellite (frameshift variant +1 more) | Neurodevelopmental disorder | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental delay +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Intellectual disability with muscular spams +1 more | GPathogenic/Likely pathogenic |
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