1q21.1 microdeletion syndrome
ORPHA:250989· ICD-10 Q93.5
Definition
1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome.
- Prevalence
- Unknown
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Infancy, Neonatal