Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome

Preferred Label : Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome;

Symbol : LEMSPAD;

CISMeF acronym : LEMSPAD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Lemspad syndrome;

Prefixed ID : #618878;

Details

Origin ID

618878;

UMLS CUI

C5394371;

Genes related to phenotype
- Eukaryotic translation initiation factor 2-alpha kinase 1 [OMIM gene]
HPO term(s)
- Anxiety [HPO term]
- Attention deficit hyperactivity disorder [HPO term]
- Autosomal dominant germline de novo mutation [HPO term]
- Bradykinesia [HPO term]
- Delayed ability to walk [HPO term]
- Delayed speech and language development [HPO term]
- Dysarthria [HPO term]
- Hypotonia [HPO term]
- Infantile onset [HPO term]
- Lower limb spasticity [HPO term]
- Urinary urgency [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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