12q15q21.1 microdeletion syndrome
From BugSigDB
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.
- Aliases
- 12q15q21.1 microdeletion syndrome
- Del(12)(q15)(q21.1)
- Deletion 12q15q21.1
- deletion 12q15q21.1
- Monosomy 12q15q21.1
- monosomy 12q15q21.1