Myasthenic syndrome, congenital, 25, presynaptic

Preferred Label : Myasthenic syndrome, congenital, 25, presynaptic;

Symbol : CMS25;

CISMeF acronym : CMS25;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the vesicle-associated membrane protein 1 gene (VAMP1, 185880.0002);

Prefixed ID : #618323;

Details

Origin ID

618323;

UMLS CUI

C5193027;

Genes related to phenotype
- Vesicle-associated membrane protein 1 [OMIM gene]
HPO term(s)
- Areflexia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Decreased fetal movement [HPO term]
- Dysarthria [HPO term]
- Dysphagia [HPO term]
- Feeding difficulties [HPO term]
- Flexion contracture [HPO term]
- Generalized amyotrophy [HPO term]
- Infantile onset [HPO term]
- Joint hypermobility [HPO term]
- Kyphosis [HPO term]
- Limited extraocular movements [HPO term]
- Motor delay [HPO term]
- Myopathic facies [HPO term]
- Myopathy [HPO term]
- Scoliosis [HPO term]
- Severe muscular hypotonia [HPO term]
- Spinal rigidity [HPO term]
- Strabismus [HPO term]
ORDO concept(s)
- Presynaptic congenital myasthenic syndromes [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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