2q23.1 microdeletion syndrome
MONDO:0016459The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures.
Also known as: Del(2)(q23.1), monosomy 2q23.1, pseudo-Angelman syndrome, chromosome 2q23.1 microdeletion syndrome
2 clinical trials for this condition and its sub-types.
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Disease
(618)
Human disease
(14)
Chromosomal disorder
(12)
Disease of genetic or genomic mechanism
(2)
Autosomal anomaly
(0)
Chromosome 2 disorder
(0)
Disease by etiologic mechanism
(0)
Partial deletion of chromosome 2
(0)
Partial deletion of the long arm of chromosome 2
(0)
Syndrome caused by partial chromosomal deletion
(0)