| Metadata | |
|---|---|
| ID | DOID:0081431 |
| Name | microcephaly, short stature, and limb abnormalities |
| Definition | An osteochondrodysplasia that is characterized by intrauterine growth retardation, microcephaly, variable short stature, and limb abnormalities mainly affecting the upper limb and radial ray and that has_material_basis_in homozygous or compound heterozygous mutation in the DONSON gene on chromosome 21q22. Biallelic mutation in the DONSON gene can also cause microcephaly-micromelia syndrome, a more severe disorder that usually results in intrauterine or perinatal death. https://pubmed.ncbi.nlm.nih.gov/28191891/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
DONSON-related microcephaly-short stature-limb abnormalities spectrum [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
existence starts during some Antenatal onset has material basis in some autosomal recessive inheritance existence starts during some Neonatal onset |