12q15q21.1 microdeletion syndrome
MONDO:001733412q15q21.1 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 12, with a highly variable phenotype, typically characterized by developmental delay, learning disability, intra-uterine and postnatal growth retardation, and mild facial dysmorphism that changes with age. Nasal speech and hypothyroidism are also associated.
Also known as: Del(12)(q15)(q21.1), deletion 12q15q21.1, monosomy 12q15q21.1
2 clinical trials for this condition and its sub-types.
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Disease
(618)
Human disease
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Chromosomal disorder
(12)
Disease of genetic or genomic mechanism
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Autosomal anomaly
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Chromosome 12 disorder
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Disease by etiologic mechanism
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Partial deletion of chromosome 12
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Partial deletion of the long arm of chromosome 12
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Syndrome caused by partial chromosomal deletion
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