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Human Disease

autosomal dominant intellectual developmental disorder 38

Term ID
DOID:0070068
Synonyms
  • autosomal dominant mental retardation 38
  • autosomal dominant non-syndromic intellectual disability 38
  • MRD38
  • PRELDS
  • psychomotor retardation, epilepsy, and language disability syndrome
Definition
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the EEF1A2 gene on chromosome 20q13.33. https://www.ncbi.nlm.nih.gov/pubmed/24697219
References
Ontology
Human Disease   ( DOID:0070068 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models