Myasthenic syndrome, congenital, 7b, presynaptic, autosomal recessive

Preferred Label : Myasthenic syndrome, congenital, 7b, presynaptic, autosomal recessive;

Symbol : CMS7B;

Type : Phenotype, molecular basis known;

Prefixed ID : #619461;

Details

Origin ID

619461;

UMLS CUI

C5561947;

Genes related to phenotype
- Synaptotagmin 2 [OMIM gene]
HPO term(s)
- Ankle flexion contracture [HPO term]
- Areflexia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar vermis hypoplasia [HPO term]
- Cerebral atrophy [HPO term]
- Congenital onset [HPO term]
- Decreased fetal movement [HPO term]
- Dysarthria [HPO term]
- Dysphagia [HPO term]
- EMG: decremental response of compound muscle action potential to repetitive nerve stimulation [HPO term]
- Easy fatigability [HPO term]
- Elbow flexion contracture [HPO term]
- Failure to thrive [HPO term]
- Fetal onset [HPO term]
- High pitched voice [HPO term]
- Hypotonia [HPO term]
- Increased variability in muscle fiber diameter [HPO term]
- Knee flexion contracture [HPO term]
- Limited extraocular movements [HPO term]
- Mitral stenosis [HPO term]
- Nasal speech [HPO term]
- Pyloric stenosis [HPO term]
- Reduced forced vital capacity [HPO term]
- Respiratory insufficiency due to muscle weakness [HPO term]
- Scoliosis [HPO term]
- Slow saccadic eye movements [HPO term]
- Subvalvular aortic stenosis [HPO term]
- Thin corpus callosum [HPO term]
- Tongue fasciculations [HPO term]
- Weak cry [HPO term]
- Weak voice [HPO term]
- Weakness of facial musculature [HPO term]
ORDO concept(s)
- Congenital myasthenic syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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