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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
congenital myasthenic syndrome
+
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
Xrefs:
MIM:619461
;
MONDO:0030341
Definition Sources:
MIM:619461