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
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Disease
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Human disease
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Chromosomal disorder
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Developmental defect during embryogenesis
(8)
Disease of genetic or genomic mechanism
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Multiple congenital anomalies/dysmorphic syndrome
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Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
(1)
Autosomal anomaly
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Chromosome 5 disorder
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Disease by developmental or physiological process
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