Search Ontology:
Human Disease

microcephaly, short stature, and limb abnormalities

Term ID
DOID:0081431
Synonyms
  • DONSON-related microcephaly-short stature-limb abnormalities spectrum
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/
References
Ontology
Human Disease   ( DOID:0081431 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models