Дистальна делеція 1q
ORPHA:36367· ICD-10 Q93.5· Distal deletion 1q syndrome
Визначення(English summary)
A rare chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophalgeal and urogenital anomalies.
- Вік початку
- Neonatal