19p13.12 microdeletion syndrome
MONDO:001676519p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism.
Also known as: Del(19)(p13.12), monosomy 19p13.12, Chromosome19p13.12 microdeletion
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 19 disorder
(0)
Disease by etiologic mechanism
(0)
Partial deletion of chromosome 19
(0)
Partial deletion of the short arm of chromosome 19
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Syndrome caused by partial chromosomal deletion
(0)