Også kjent som: Non‑distal monosomy 12q
Engelsk navn: Non-distal deletion 12q
Engelske synonym: Non-distal monosomy 12q,Non-telomeric monosomy 12q
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.