Chromosome 8q21.11 deletion syndrome
MONDO:0013646Heterozygous 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, Del(8)(q21.11), chromosome 8q21.11 deletion syndrome, chromosome 8q21.11 deletion syndrome, isolated cases, deletion 8q21.11, monosomy 8q21.11
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Disease
(680)
Human disease
(14)
Chromosomal disorder
(12)
Developmental defect during embryogenesis
(8)
Disease of genetic or genomic mechanism
(2)
Multiple congenital anomalies/dysmorphic syndrome
(1)
Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
(1)
Autosomal anomaly
(0)
Chromosome 8 disorder
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Disease by developmental or physiological process
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