8p inverted duplication or deletion (Q85726)
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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 |
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| 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. |
