FB2025_05 , released December 11, 2025

CV Term Report

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General Information

Term

neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures

ID (Ontology)

DOID:0081327 (Human Disease)

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.

Also Known As

"NEDAMSS"

Comment

Links to External Ontologies

DO.org

Annotations

Records annotated with this term OR any of its CHILD TERMS

Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records

Full annotation statements	Relevant FlyBase reports
Full annotation statements	Alleles	Genes	Human Disease Models
neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	15	6	1
ameliorates \| neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	4	--	--
for disease ribbon \| neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	--	1	--
model of \| neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	11	1	--

Spanning Tree (Parents/Children)

  central nervous system disease
   |__neurodegenerative disease
       |__neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures  22 rec.

Spanning Tree View Settings
Parents/Children View Depth	Show hierarchy levels: for parents, for children
Relationships
Is a	neurodegenerative disease
Part of
Synonyms & Secondary IDs
Synonyms
	"NEDAMSS" EXACT OMO:0003012
Secondary IDs

External Crossreferences & Linkouts
	MIM:618088