chromosome 8q21.11 deletion syndrome
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
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