Monosomy 9q22.3

MONDO:0019179

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.

Also known as: microdeletion 9q22.3

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