2q23.1 microdeletion syndrome
The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0005027
epilepsy
excluded_subClassOf
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
excluded_subClassOf
MONDO:0016901
partial deletion of the long arm of chromosome 2
is_a
Del(2)(q23.1)
exact
chromosome 2q23.1 microdeletion syndrome
related
monosomy 2q23.1
exact
pseudo-Angelman syndrome
exact