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Interstitial 9q22.3 microdeletion is associated with a phenotype including macrocephaly, overgrowth and trigonocephaly. Psychomotor delay, hyperactivity and distinctive facial features were also observed. It has been described in two unrelated children.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
Data assembled from 2 of 12 sources · Last updated Sep 20, 2026, 12:11 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center