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20p13 microdeletion syndrome
MONDO:001778020p13 microdeletion syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to moderate intellectual disability, epilepsy, and unspecific dysmorphic signs. High palate, delayed permanent tooth eruption, hypoplastic fingernails, clinodactyly and short fingers have also been reported.
Also known as: 20p subtelomeric deletion syndrome, Del(20)(p13), monosomy 20p13
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 20 disorder
(0)
Disease by developmental or physiological process
(0)