Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures

Preferred Label : Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures;

Symbol : NEDHSS;

Type : Phenotype, molecular basis known;

Prefixed ID : #620455;

Details

Origin ID

620455;

UMLS CUI

C5830654;

Genes related to phenotype
- Eukaryotic translation initiation factor 4a, isoform 2 [OMIM gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

You can consult :

All resources
or only the major
or use the search engine

recommendations
documents concerning education
documents for patients