microcephaly-micromelia syndrome

Term ID

DOID:0081432

Synonyms

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. https://pubmed.ncbi.nlm.nih.gov/28630177/

References

• MIM:251230
• ORDO:572768

Ontology

Human Disease   ( DOID:0081432 )