5q14.3 microdeletion syndrome
5q14.3 deletion syndrome
related
Del(5)(q14.3)
exact
autosomal dominant intellectual disability 20
related
chromosome 5q14.3 deletion syndrome
related
monosomy 5q14.3
exact
The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy.
MONDO:0002254
syndromic disease
excluded_subClassOf
MONDO:0005027
epilepsy
excluded_subClassOf
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
MONDO:0016904
partial deletion of the long arm of chromosome 5
is_a