microcephaly, short stature, and limb abnormalities

Go to external page http://purl.obolibrary.org/obo/DOID_0081431


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. [ url:https://pubmed.ncbi.nlm.nih.gov/28191891/ ]

Synonyms: DONSON-related microcephaly-short stature-limb abnormalities spectrum

This is just here as a test because I lose it