FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
Help Close All Open All
General Information
Term microcephaly-micromelia syndrome ID (Ontology) DOID:0081432 (Human Disease)
Definition A syndrome that is characterized by intrauterine growth retardation (IUGR), marked microcephaly, craniosynostosis, and severe malformation of the limbs, especially the arms and that has_material_basis_in homozygous mutation in the DONSON gene on chromosome 21q22. Biallelic mutation in the DONSON gene can also cause microcephaly, short stature, and limb abnormalities, a less severe disorder.
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
 microcephaly-micromelia syndrome       1
 for disease ribbon | microcephaly-micromelia syndrome       1
 model of | microcephaly-micromelia syndrome       1
Spanning Tree (Parents/Children)
Only view relationship: 
  disease
   |__syndrome
       |__microcephaly-micromelia syndrome  1 rec.
Spanning Tree View Settings
Parents/Children
View Depth
Show hierarchy levels: for parents, for children
hide Relationships
Is a syndrome
Part of
hide Synonyms & Secondary IDs
Synonyms
Secondary IDs
hide External Crossreferences & Linkouts
MIM:251230
ORDO:572768