2p13.2 microdeletion syndrome
MONDO:0018207Mondo
Findings
No curated finding names 2p13.2 microdeletion syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
2p13.2 microdeletion syndrome is a rare partial autosomal monosomy characterized by global development delay, intellectual disability, behavioral abnormalities (hyperactivity, attention deficit and autistic behaviors), brachycephaly and variable facial dysmorphism. Other associated features may include vertebral fusions, mild contractures of knees and elbows, and feeding difficulties during infancy.
Definition from the Mondo Disease Ontology (MONDO:0018207), read 2026-09-29. CC BY 4.0.
Where it sits
Other names
1 name
Resolves to: 2p13.2 microdeletion syndrome
- Also called
- Del(2)(p13.2)