distal monosomy 12p
MONDO:0017229Mondo
Findings
No curated finding names distal monosomy 12p yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Distal monosomy 12p is a rare partial autosomal monosomy characterized by language development delay with childhood apraxia of speech, mild intellectual disability, behavourial abnormalities (autistic spectrum disorder, attention deficit hyperactivity disorder, anxiety) and mildly dysmorphic nonspecific features. Additional clinical features may include muscular hypotonia and joint laxity, hernias and microcephaly.
Definition from the Mondo Disease Ontology (MONDO:0017229), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of
Other names
4 names
Resolves to: distal monosomy 12p
- Also called
- 12p13.33 microdeletion syndromeDel(12)(p13.33)distal deletion 12pdistal monosomy type 12p