Links from MedGen
Items: 8
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures | |
| | KLF9-DT, TRPM3 (R1391S +9 more) | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | TRPM3-related disorder +6 more | GPathogenic/Likely pathogenic |
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