Preferred Label : 1q42qter deletion;
ICD-11 definition : 1qter deletion syndrome is a 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.;
ICD-11 synonym : Distal 1q deletion syndrome; Distal monosomy 1q;
Origin ID : 2124150657;
Automatic exact mappings (from CISMeF team)
1qter deletion syndrome is a 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.
