Joubert syndrome 15 (Q32145637)
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Joubert syndrome characterized by ataxia, hypotonia, delayed psychomotor development, and variable mental retardation that has material basis in homozygous mutation in the CEP41 gene on chromosome 7q32
- JBTS15
- Joubert Syndrome 12/15, Digenic
- Joubert Syndrome 9/15, Digenic
- JOUBERT SYNDROME 15; JBTS15
- Joubert syndrome type 15
- JOUBERT SYNDROME 15
Language | Label | Description | Also known as |
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English | Joubert syndrome 15 |
Joubert syndrome characterized by ataxia, hypotonia, delayed psychomotor development, and variable mental retardation that has material basis in homozygous mutation in the CEP41 gene on chromosome 7q32 |
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