|
?:definition
|
-
A rare partial monosomy of the short arm of chromosome 17 with a variable phenotype. The disease has characteristics of prenatal and postnatal growth retardation, developmental delay, mild intellectual disability, macrocephaly, mild facial dysmorphism 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 not lissencephaly.
|
![[This page as RDF]](https://research.tib.eu/covid-19/static/rdf-icon.gif){kind=icon}