Catalog

1q42qter deletion

No MMS code

Link to WHO Definition

1q42qter deletion – http://id.who.int/icd/entity/2124150657

1qter deletion syndrome is a chromosomal anomaly characterised 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.