Koolen-De Vries syndrome

Monosomy 17q21.31 (17q21.31 microdeletion syndrome) is a chromosomal anomaly characterized by developmental delay, childhood hypotonia, facial dysmorphism, and a friendly/amiable behavior.

Microcephaly

Head circumference below 2 standard deviations below the mean for age and gender.


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PMID (PMCID)