20p13 microdeletion syndrome
20p13 microdeletion syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to moderate intellectual disability, epilepsy, and unspecific dysmorphic signs. High palate, delayed permanent tooth eruption, hypoplastic fingernails, clinodactyly and short fingers have also been reported.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
MONDO:0016898
partial monosomy of the short arm of chromosome 20
is_a
20p subtelomeric deletion syndrome
exact
Del(20)(p13)
exact
monosomy 20p13
exact