9p13 microdeletion syndrome
9p13 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial deletion of the short arm of chromosome 9, characterized by mild to moderate developmental delay, hand tremors, myoclonic jerks, attention deficit-hyperactivity disorder and a social personality. Patients also present bruxism, short stature and minor facial dysmorphic features (e.g., bilateral epicantic folds, broad, flat nasal bridge, anteverted nares, low-set ears micro/retro-gnathia).
MONDO:0000508
syndromic intellectual disability
is_a
MONDO:0008013
chromosome 9p deletion syndrome
is_a
Del(9)(p13)
exact
monosomy 9p13
exact