Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome

Preferred Label : Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome;

Symbol : LEUDEN;

CISMeF acronym : LEUDEN;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Leuden syndrome;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the eukaryotic translation initiation factor 2-alpha kinase 2 gene (EIF2AK2, 176871.0001);

Prefixed ID : #618877;

Détails

Origin ID

618877;

UMLS CUI

C5394367;

Genes related to phenotype
- Eukaryotic translation initiation factor 2-alpha kinase 2 [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bowel incontinence [HPO term]
- Bradykinesia [HPO term]
- Cerebral atrophy [HPO term]
- Choreoathetosis [HPO term]
- Delayed CNS myelination [HPO term]
- Dysarthria [HPO term]
- Dystonia [HPO term]
- Gait ataxia [HPO term]
- Gastroparesis [HPO term]
- Head titubation [HPO term]
- Hemiballismus [HPO term]
- Hypertonia [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypotonia [HPO term]
- Inability to walk [HPO term]
- Infantile onset [HPO term]
- Mask-like facies [HPO term]
- Microcephaly [HPO term]
- Myoclonus [HPO term]
- Parkinsonism [HPO term]
- Polymicrogyria [HPO term]
- Rigidity [HPO term]
- Seizure [HPO term]
- Spasticity [HPO term]
- Tremor [HPO term]
- Truncal ataxia [HPO term]
- Urinary incontinence [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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