Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome | |
| | | Single nucleotide variant (missense variant) | Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome | |
| | | Single nucleotide variant (missense variant) | Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome | |
| | IGBP1, LOC130068396 (P13A) | Single nucleotide variant (missense variant) | Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome | |
| | | Indel (5 prime UTR variant +1 more) | Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome | |
Click to view in NCBI Gene