Distal monosomy 12p
MONDO:0017229Distal monosomy 12p is a rare partial autosomal monosomy characterized by language development delay with childhood apraxia of speech, mild intellectual disability, behavourial abnormalities (autistic spectrum disorder, attention deficit hyperactivity disorder, anxiety) and mildly dysmorphic nonspecific features. Additional clinical features may include muscular hypotonia and joint laxity, hernias and microcephaly.
Also known as: 12p13.33 microdeletion syndrome, Del(12)(p13.33), distal deletion 12p, distal monosomy type 12p
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
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Chromosome 12 disorder
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Chromosome 12p deletion
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Disease by etiologic mechanism
(0)
Partial deletion of chromosome 12
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Syndrome caused by partial chromosomal deletion
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