3q27.3 microdeletion syndrome
MONDO:0018341Mondo
Findings
No curated finding names 3q27.3 microdeletion syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3, characterized by mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (incl. slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low- set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus.
Definition from the Mondo Disease Ontology (MONDO:0018341), read 2026-09-29. CC BY 4.0.
Where it sits
Other names
1 name
Resolves to: 3q27.3 microdeletion syndrome
- Also called
- Del(3)(q27.3)