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Ontology Browser
Term:
Presynaptic Congenital Myasthenic Syndrome 7B, Autosomal Recessive (DOID:9001976)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1) Naked Mole-rat: (1) Green Monkey: (1)
Parent Terms Term With Siblings Child Terms
Autoimmune Limb-Girdle Myasthenia 
Compton-North congenital myopathy  
Congenital Myasthenia, Refractory to Acetylcholinesterase Inhibitors 
congenital myasthenic syndrome 10  
congenital myasthenic syndrome 11  
congenital myasthenic syndrome 12  
congenital myasthenic syndrome 13  
congenital myasthenic syndrome 14  
congenital myasthenic syndrome 15  
congenital myasthenic syndrome 16  
congenital myasthenic syndrome 17  
congenital myasthenic syndrome 18  
congenital myasthenic syndrome 19  
congenital myasthenic syndrome 1A  
congenital myasthenic syndrome 20  
congenital myasthenic syndrome 21  
congenital myasthenic syndrome 22  
Congenital Myasthenic Syndrome 23  
Congenital Myasthenic Syndrome 24  
Congenital Myasthenic Syndrome 25  
congenital myasthenic syndrome 2A  
congenital myasthenic syndrome 2C  
congenital myasthenic syndrome 3A  
congenital myasthenic syndrome 3B  
congenital myasthenic syndrome 3C  
congenital myasthenic syndrome 4 +   
congenital myasthenic syndrome 5  
congenital myasthenic syndrome 6  
congenital myasthenic syndrome 7  
congenital myasthenic syndrome 8  
congenital myasthenic syndrome 9  
Congenital Myasthenic Syndrome, Fast-Channel +   
Congenital Myasthenic Syndrome, with Facial Dysmorphism 
Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency +   
Limb-Girdle Myasthenia, with Tubular Aggregates 
Presynaptic Congenital Myasthenic Syndrome 7B, Autosomal Recessive  
This disease is characterized by severe generalized muscle weakness apparent from birth. Affected infants have generalized hypotonia with poor cry and feeding, head lag, and facial muscle weakness with ptosis.

Synonyms
Exact Synonyms: CMS7B
Broad Synonyms: SYT2-RELATED CONDITION
Primary IDs: OMIM:619461
Definition Sources: OMIM:619461

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