Microcephaly-Micromelia Syndrome
Disease ID: disease_node_20266
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| Dbxref | MIM:251230, ORDO:572768 |
|---|---|
| Subclassof | DOID_225 |
| Data Source | DOID |
| Doid Label | microcephaly-micromelia syndrome |
| Doid Description | 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. |
| Existence Starts During | HP_0030674 |
| Disease Node Id | disease_node_20266 |
| Doid Id | DOID_0081432 |
| Label | Microcephaly-Micromelia Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease)