Version: 8.0.0
Date: Tue Jan 28 2025
microcephaly-micromelia syndrome
DOID:0081432
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

microcephaly-micromelia syndrome

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.
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None
Cross References
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