Potocki-Lupski syndrome
17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 17, typically characterized by hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders (behavioral problems, anxiety, attention deficit hyperactivity disorder, autistic spectrum disorder, bipolar disorder). Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0002254
syndromic disease
is_a
MONDO:0003847
hereditary disease
is_a
MONDO:0016950
partial duplication of the short arm of chromosome 17
is_a
17p11.2 Duplication syndrome
exact
17p11.2 microduplication syndrome
exact
Duplication 17p11.2 syndrome
related
PTLS
related
Potocki-Lupski syndrome
exact
Potocki-Lupski syndrome (dup(17)(p11.2p11.2))
related
Potocki-Lupski syndrome, Isolated cases
exact
chromosome 17p11.2 duplication syndrome
exact
trisomy 17p11.2
exact