12q15q21.1 microdeletion syndrome
MONDO:0017334Mondo
Findings
No curated finding names 12q15q21.1 microdeletion syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0017334), read 2026-09-29. CC BY 4.0.
Where it sits
Other names
3 names
Resolves to: 12q15q21.1 microdeletion syndrome
- Also called
- Del(12)(q15)(q21.1)deletion 12q15q21.1monosomy 12q15q21.1