You are using an outdated browser. Please upgrade your browser to improve your experience.

3q27.3 microdeletion syndrome

Disease Summary
Associated Targets (0)

Explore Associated Targets
Mondo Description 3q27.3 microdeletion syndrome is 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.
Mondo Term and Equivalent IDs
MONDO:0018341:  3q27.3 microdeletion syndrome
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)
No novelty measurements found