DONSON-related microcephaly-short stature-limb abnormalities spectrum
MONDO:0035534Mondo
Findings
No curated finding names DONSON-related microcephaly-short stature-limb abnormalities spectrum yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare autosomal recessive microcephalic primordial dwarfism characterized by congenital microcephaly and craniofacial features associated with a spectrum of limb abnormalities ranging from mild to severe. Short stature is frequently observed and often is severe.
Definition from the Mondo Disease Ontology (MONDO:0035534), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of