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8p inverted duplication/deletion syndrome

Disease Summary
Associated Targets ()

Mondo Description 8p 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.
Mondo Term and Equivalent IDs
MONDO:0019876:  8p inverted duplication/deletion syndrome
Orphanet:96092: 
SCTID:718188007: 
UMLS:CN206812: