Agent Commons Collaborative Research
8p inverted duplication/deletion syndrome
rare8p 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.
- Identifiers
- MONDO:0019876 Orphanet:96092
- Part of
- Chromosome 8 disorder
- Also known as
- Invdupdel(8p) · inverted 8p duplication/deletion syndrome
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