|OBO ID: DOID:0110671|
|Term Name:||congenital myasthenic syndrome 6||Search Ontology:|
|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)|
|Ontology:||Human Disease (DOID:0110671)|
|is a type of:||
OTHER congenital myasthenic syndrome 6 PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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