14q11.2 microduplication syndrome
14q11.2 microduplication syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to severe intellectual disability with speech impairment and epilepsy. Additionally, it may include dysmorphic features (such as hypo- or hypertelorism, dysplastic ears, short palpebral fissures), microcephaly or macrocephaly, behavioral abnormalities, stereotyped hand movements, ataxia, hypotonia, cleft palate.
MONDO:0016964
partial duplication of the long arm of chromosome 14
is_a
dup(14)(q11.2)
exact
trisomy 14q11.2
exact