monosomy 9q22.3
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.
MONDO:0016908
partial monosomy of the long arm of chromosome 9
is_a
microdeletion 9q22.3
exact