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Postsynaptic congenital myasthenic syndromes
5 OMIM references -
10 associated genes
47 connected diseases
No signs/symptoms info
Disease Type of connection
Lethal multiple pterygium syndrome
Fetal akinesia deformation sequence
Acetazolamide-responsive myotonia
Cenani-Lenz syndrome
Hyperkalemic periodic paralysis
Hypokalemic periodic paralysis
Myotonia fluctuans
Myotonia permanens
Paramyotonia congenita of Von Eulenburg
Sclerosteosis
Autosomal recessive limb-girdle muscular dystrophy type 2P
Muscle-eye-brain disease with bilateral multicystic leucodystrophy
Autosomal dominant Emery-Dreifuss muscular dystrophy
Autosomal recessive ataxia, Beauce type
Autosomal recessive myogenic arthrogryposis multiplex congenita
Congenital fiber-type disproportion myopathy
Congenital muscular dystrophy with integrin alpha-7 deficiency
Catecholaminergic polymorphic ventricular tachycardia
Alternating hemiplegia of childhood
Benign paroxysmal torticollis of infancy
Familial or sporadic hemiplegic migraine
Familial paroxysmal ataxia
Spinocerebellar ataxia type 6
Spinocerebellar ataxia type 7
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Dentatorubral pallidoluysian atrophy
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
Early infantile epileptic encephalopathy
Familial isolated dilated cardiomyopathy
Gray platelet syndrome
Hyperinsulinism due to INSR deficiency
Insulin-resistance syndrome type A
Leprechaunism
Muscular dystrophy, Selcen type
Rabson-Mendenhall syndrome
Usher syndrome type 2
Romano-Ward syndrome
Autosomal recessive multiple pterygium syndrome
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Synaptic congenital myasthenic syndromes
X-linked non-syndromic intellectual deficit
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
(no data available)
External references:
5 OMIM references -
No MeSH references
No signs/symptoms info available.