2q24 microdeletion syndrome
2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism.
MONDO:0020226
obsolete chromosomal anomaly with cataract (obsolete MONDO:0020226)
excluded_subClassOf
MONDO:0016901
partial deletion of the long arm of chromosome 2
is_a
2q24 deletion
related
Del(2)(q24)
exact
chromosome 2q24 microdeletion syndrome
related
deletion 2q24
related
monosomy 2q24
exact