Developmental and epileptic encephalopathy 117

Preferred Label : Developmental and epileptic encephalopathy 117;

Symbol : DEE117;

CISMeF acronym : CMS18;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Myasthenic syndrome, congenital, 18, with intellectual disability and ataxia; Myasthenic syndrome, congenital, 18; CMS18;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the synaptosomal-associated protein, 25-kD gene (SNAP25, 600322.0001);

Prefixed ID : #616330;

Details

Origin ID

616330;

UMLS CUI

C4225364;

CISMeF manual mappings
- congenital myasthenic syndrome 18 [DO Concept]
DO Cross reference
- congenital myasthenic syndrome 18 [DO Concept]
Genes related to phenotype
- Synaptosomal-associated protein, 25-kd [OMIM gene]
HPO term(s)
- Areflexia [HPO term]
- Ataxia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Congenital onset [HPO term]
- Decreased fetal movement [HPO term]
- Delayed ability to walk [HPO term]
- Difficulty walking [HPO term]
- Dysarthria [HPO term]
- Easy fatigability [HPO term]
- Echolalia [HPO term]
- Fatigable weakness [HPO term]
- Flexion contracture [HPO term]
- Gait disturbance [HPO term]
- Global developmental delay [HPO term]
- Knee flexion contracture [HPO term]
- Muscle weakness [HPO term]
- Neonatal respiratory distress [HPO term]
- Poor speech [HPO term]
- Ptosis [HPO term]
- Respiratory insufficiency [HPO term]
- Third trimester onset [HPO term]
ORDO concept(s)
- Congenital myasthenic syndrome [ORDO Disease]
- Presynaptic congenital myasthenic syndromes [ORDO Disease]
See also inter- (CISMeF)
- SNAP25 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- congenital myasthenic syndrome 18 [DO Concept]
Validated automatic mappings to NTBT
- Congenital myasthenic syndrome [ORDO Disease]
- Presynaptic congenital myasthenic syndromes [ORDO Disease]

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