Distal deletion 1q syndrome
ORPHA:36367· ICD-10 Q93.5
Definition
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-oesophageal and urogenital anomalies.
- Age of onset
- Neonatal