8p inverted duplication/deletion syndrome
MONDO:00198768p inverted duplication/deletion [invdupdel(8p)] syndrome is a rare chromosomal anomaly characterized clinically by mild to severe intellectual deficit, severe developmental delay (psychomotor and speech development), hypotonia with tendency to develop progressive hypertonia and severe orthopedic problems over time, minor facial anomalies and agenesis of the corpus callosum.
Also known as: Invdupdel(8p), inverted 8p duplication/deletion syndrome
0 clinical trials for this condition and its sub-types, 0 tagged with 8p inverted duplication/deletion syndrome itself.
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