chromosome 8q21.11 deletion syndrome
8q21.11 microdeletion syndrome
exact
Del(8)(q21.11)
exact
chromosome 8q21.11 deletion syndrome
exact
chromosome 8q21.11 deletion syndrome, isolated cases
exact
deletion 8q21.11
exact
monosomy 8q21.11
exact
Heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
MONDO:0016907
partial deletion of the long arm of chromosome 8
is_a