FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
Help Close All Open All
General Information
Term neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties ID (Ontology) DOID:0070479 (Human Disease)
Definition An diphthamide deficiency syndrome characterized by distinct craniofacial features, multisystem dysfunction, profound neurodevelopmental delays, and neonatal death that has_material_basis_in homozygous or compound heterozygous mutation in the DPH5 gene on chromosome 1p21.2.
Also Known As "NEDSFF"
Comment
Links to External Ontologies
DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
    Results list data from multiple species. Click on a button above and use the 'Filter by species' options on the resulting HitList to retrieve species-specific data.
Records annotated with this exact term (annotations to child terms are NOT included)
No relevant records available
show Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
 Full annotation statements 
Relevant FlyBase reports
 Genes
 neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties       1
 for disease ribbon | neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties       1
 model of | neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties       1
Spanning Tree (Parents/Children)
Only view relationship: 
autosomal recessive disease____
amino acid metabolic disorder__|
                               diphthamide deficiency syndrome
                                |__neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties  1 rec.
Spanning Tree View Settings
Parents/Children
View Depth
Show hierarchy levels: for parents, for children
hide Relationships
Is a diphthamide deficiency syndrome
Part of
hide Synonyms & Secondary IDs
Synonyms
  • "NEDSFF" EXACT OMO:0003012
Secondary IDs
hide External Crossreferences & Linkouts
MIM:620070