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General Information
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| Term |
congenital myasthenic syndrome 6 |
ID (Ontology) |
DOID:0110671 (Human Disease) |
| Definition |
A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a presynaptic defect resulting in onset of muscle weakeness in infancy or early childhood and a tendency to have sudden apneic episodes that has_material_basis_in homozygous or compound heterozygous mutation in the CHAT gene on chromosome 10q. |
| Also Known As |
"CMS Ia2" ; "CMS1A2" ; "CMS6" (for all, see Synonyms field below) |
| Comment |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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No relevant records available
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Genes |
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congenital myasthenic syndrome 6 | 1 | for disease ribbon | congenital myasthenic syndrome 6 | 1 | model of | congenital myasthenic syndrome 6 | 1 |
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Relationships