8p inverted duplication/deletion syndrome
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:0700015
chromosome 8 disorder
is_a
Invdupdel(8p)
exact
inverted 8p duplication/deletion syndrome
exact