Koolen-de Vries syndrome
MONDO:0012496A chromosomal anomaly characterized by developmental delay, childhood hypotonia, facial dysmorphism, and a friendly/amiable behavior.
Also known as: KANSL1-related intellectual disability syndrome, KDVS, KdVS, Koolen de Vries syndrome, Koolen-De Vries syndrome, chromosome 17q21.31 deletion syndrome, microdeletion 17q21.31 syndrome, 17q21.31 deletion syndrome
1 clinical trial for this condition and its sub-types.
Follow this condition — get notified about new trialsSub-types
Broader categories
Disease
(647)
Hereditary disease
(176)
Human disease
(14)
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)
Disease by developmental or physiological process
(0)
Disease by etiologic mechanism
(0)
Disorder of development or morphogenesis
(0)