Distal 17p13.3 microdeletion syndrome
MONDO:0016839Distal 17p13.3 microdeletion syndrome is a rare partial monosomy of the short arm of chromosome 17 with a variable phenotype characterized by prenatal and postnatal growth retardation, developmental delay, mild intellectual disability, macrocephaly, mild facial dysmorphisms including prominent forehead, hypertelorism, thick upper and/or lower lip vermillion, and structural abnormalities of the brain variably including white matter abnormalities, prominent Virchow-Robin spaces, Chiari I malformation, corpus callosum hypoplasia, but no lissencephaly.
Also known as: distal del(17)(p13.3), distal monosomy 17p13.3
2 clinical trials for this condition and its sub-types.
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Disease
(618)
Human disease
(14)
Chromosomal disorder
(12)
Chromosome 17p deletion
(5)
Disease of genetic or genomic mechanism
(2)
Autosomal anomaly
(0)
Chromosome 17 disorder
(0)
Disease by etiologic mechanism
(0)
Partial deletion of chromosome 17
(0)
Syndrome caused by partial chromosomal deletion
(0)