Дистальна делеція 7p
ORPHA:96126· ICD-10 Q93.5· Distal deletion 7p syndrome
Визначення(English summary)
Distal monosomy 7p is a partial autosomal monosomy characterized by developmental delay and intellectual disability, digital anomalies, congenital heart and urogenital anomalies, and specific craniofacial features, commonly including craniosynostosis.
- Вік початку
- Antenatal, Neonatal