Myasthenic syndrome, congenital, 20, presynaptic

Preferred Label : Myasthenic syndrome, congenital, 20, presynaptic;

Symbol : CMS20;

CISMeF acronym : CMS20;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the solute carrier family 5 (choline transporter), member 7 gene (SLC5A7, 608761.0002);

Prefixed ID : #617143;

Details

Origin ID

617143;

UMLS CUI

C4310694;

CISMeF manual mappings
- congenital myasthenic syndrome 20 [DO Concept]
DO Cross reference
- congenital myasthenic syndrome 20 [DO Concept]
Genes related to phenotype
- Solute carrier family 5 (choline transporter), member 7 [OMIM gene]
HPO term(s)
- Apnea [HPO term]
- Arthrogryposis multiplex congenita [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bulbar palsy [HPO term]
- Cognitive impairment [HPO term]
- Delayed ability to walk [HPO term]
- Dysphagia [HPO term]
- Dysphonia [HPO term]
- Facial palsy [HPO term]
- Feeding difficulties [HPO term]
- Generalized hypotonia [HPO term]
- Hypoventilation [HPO term]
- Kyphosis [HPO term]
- Muscle weakness [HPO term]
- Neck muscle weakness [HPO term]
- Ophthalmoparesis [HPO term]
- Polyhydramnios [HPO term]
- Poor suck [HPO term]
- Proximal muscle weakness [HPO term]
- Ptosis [HPO term]
- Scoliosis [HPO term]
- Stridor [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Congenital myasthenic syndrome [ORDO Disease]
- Presynaptic congenital myasthenic syndromes [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- congenital myasthenic syndrome 20 [DO Concept]
Validated automatic mappings to NTBT
- Congenital myasthenic syndrome [ORDO Disease]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients