chromosome 16p11.2 duplication syndrome
Proximal 16p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 characterized by developmental delay and intellectual disability of a highly variable degree, autism spectrum, obsessive-compulsive, attention deficit hyperactivity disorder, speech articulation abnormalities, muscular hypotonia, tremor, hyper- or hyporeflexia, seizures, microcephaly, neuroimaging abnormalities, decreased body mass index and schizophrenia or bipolar disorder later on in life.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0016949
partial duplication of the short arm of chromosome 16
is_a
16p11.2 duplication
related
16p11.2 duplication syndrome
related
16p11.2 microduplication
related
AUTS14B
related
chromosome 16p11.2 duplication syndrome
exact
proximal 16p11.2 microduplication syndrome
exact
proximal dup(16)(p11.2)
exact
proximal trisomy 16p11.2
exact
susceptibility to autism, 14B
related