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Human Disease

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
Ontology
Human Disease   ( DOID:0081432 )
Relationships
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Genes Involved
Zebrafish Models