Non-distal deletion 12q syndrome
ORPHA:96160· ICD-10 Q93.5
Definition
A partial autosomal monosomy characterized by variable combination of developmental delay, intellectual disability, ectodermal, genitourinary and minor cardiac anomalies, and specific dysmorphic features (prominent forehead and low-set ears). Specific combination depends on the size and breakpoints of deleted regions.
- Age of onset
- Neonatal