| Metadata | |
|---|---|
| ID | DOID:0081432 |
| Name | 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. https://pubmed.ncbi.nlm.nih.gov/28630177/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Parent Relationships |
is_a syndrome |
| Subclass Logical Relationships |
existence starts during some Antenatal onset |