Catalog

8p inverted duplication or deletion

No MMS code

Link to WHO Definition

8p inverted duplication or deletion – http://id.who.int/icd/entity/476283268

8p inverted duplication/deletion [invdupdel(8p)] syndrome is a rare chromosomal anomaly characterised clinically by mild to severe intellectual deficit, severe developmental delay (psychomotor and speech development), hypotonia with tendency to develop progressive hypertonia and severe orthopaedic problems over time, minor facial anomalies and agenesis of the corpus callosum.