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.
MONDO:0016877
partial deletion of the long arm of chromosome 12
is_a
Del(12)(q15)(q21.1)
exact
deletion 12q15q21.1
exact
monosomy 12q15q21.1
exact