5q14.3 microdeletion syndrome
MONDO:0016456The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy.
Also known as: Del(5)(q14.3), monosomy 5q14.3, 5q14.3 deletion syndrome, autosomal dominant intellectual disability 20, chromosome 5q14.3 deletion syndrome
6 clinical trials for this condition and its sub-types.
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Disease
(618)
Human disease
(14)
Chromosomal disorder
(12)
Developmental defect during embryogenesis
(7)
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 5 disorder
(0)
Disease by developmental or physiological process
(0)