16p13.11 microdeletion syndrome
MONDO:001683616p13.11 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioral problems.
Also known as: 16p13.11 recurrent microdeletion (neurocognitive disorder susceptibility locus), Del(16)(p13.11), monosomy 16p13.11
1 clinical trial for this condition and its sub-types.
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Disease
(680)
Human disease
(14)
Chromosomal disorder
(12)
Disease of genetic or genomic mechanism
(2)
Autosomal anomaly
(0)
Chromosome 16 disorder
(0)
Disease by etiologic mechanism
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Partial deletion of chromosome 16
(0)
Partial deletion of the short arm of chromosome 16
(0)
Syndrome caused by partial chromosomal deletion
(0)