Term Name: microcephaly-micromelia syndrome
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.
Ontology: Human Disease [DOID:0081432]   ( DOID:0081432 )

Relationships
is a type of: syndrome