Joubert syndrome 24 (Q32145774)
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Joubert syndrome characterized by delayed psychomotor development and molar tooth sign on brain MRI that has material basis in homozygous mutation in the TCTN2 gene on chromosome 12q24
- JBTS24
- Joubert Syndrome type 24
- Joubert Syndrome 24
Language | Label | Description | Also known as |
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English | Joubert syndrome 24 |
Joubert syndrome characterized by delayed psychomotor development and molar tooth sign on brain MRI that has material basis in homozygous mutation in the TCTN2 gene on chromosome 12q24 |
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Statements
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Identifiers
1 reference
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1 reference