Chromosome 8q21.11 deletion syndrome
Chromosome 8q21.11 deletion syndrome
Definition
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.
Also known as 8q21.11 microdeletion syndrome, chromosome 8q21.11 deletion syndrome, chromosome 8q21.11 deletion syndrome, isolated cases, Del(8)(q21.11), deletion 8q21.11, monosomy 8q21.11 — per MONDO