12q15q21.1 microdeletion syndrome

12q15q21.1 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 12, with a highly variable phenotype, typically characterized by developmental delay, learning disability, intra-uterine and postnatal growth retardation, and mild facial dysmorphism that changes with age. Nasal speech and hypothyroidism are also associated.

Also known as: Del(12)(q15)(q21.1), deletion 12q15q21.1, monosomy 12q15q21.1

0 clinical trials for this condition and its sub-types, 0 tagged with 12q15q21.1 microdeletion syndrome itself.