Joubert syndrome 26 (Q32145802)
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Joubert syndrome characterized by global developmental delay and cerebellar hypoplasia that has material basis in homozygous mutation in the KIAA0556 gene on chromosome 16p12
- JBTS26
- Joubert Syndrome type 26
- Joubert Syndrome 26
Language | Label | Description | Also known as |
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English | Joubert syndrome 26 |
Joubert syndrome characterized by global developmental delay and cerebellar hypoplasia that has material basis in homozygous mutation in the KIAA0556 gene on chromosome 16p12 |
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Statements
2 references
Identifiers
1 reference
1 reference
1 reference