Term Name: | microcephaly-micromelia syndrome |
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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 ) |