OBO ID: DOID:0110671 |
Term Name: | congenital myasthenic syndrome 6 | Search Ontology: | |
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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. (3) | ||
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Ontology: | Human Disease ( DOID:0110671 ) |
OTHER congenital myasthenic syndrome 6 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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