8p inverted duplication or deletion (Q85726): Difference between revisions

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+August 2026Timestamp +2026-08-13T00:00:00Z
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Latest revision as of 11:05, 15 August 2026

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.

Language	Label	Description	Also known as
default for all languages	ID_476283268
English	8p inverted duplication or deletion	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.