OBO ID: DOID:0081327
Term Name: neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures Search Ontology:
Synonyms:
  • NEDAMSS
Definition: A neurodegenerative disease that is characterized by neurodevelopmental regression that became apparent between 2 and 10 years of age after normal early development in most patients, although a few had mild early delays and that has_material_basis_in heterozygous mutation in the IRF2BPL gene on chromosome 14q24. (5)
References:
Ontology: Human Disease   ( DOID:0081327 )
Relationships
is a type of:
OTHER neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
IRF2BPL Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 618088
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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