5q14.3 microdeletion syndrome
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
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