Williams syndrome
A rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0005267
heart disorder
excluded_subClassOf
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
excluded_subClassOf
MONDO:0017656
obsolete motor stereotypies (obsolete MONDO:0017656)
excluded_subClassOf
MONDO:0020165
obsolete syndromic epicanthus (obsolete MONDO:0020165)
excluded_subClassOf
MONDO:0002254
syndromic disease
is_a
MONDO:0016906
partial deletion of the long arm of chromosome 7
is_a
MONDO:0700092
neurodevelopmental disorder
is_a
WBS
related
WMS
related
Williams syndrome
exact
Williams-Beuren syndrome
exact
Williams-Beuren syndrome (WBS)
exact
deletion 7q11.23
exact
monosomy 7q11.23
exact
SPAC27D7.13c SPAC2C4.06c SPAC3C7.12