PropertyValue
?:definition
  • An autosomal anomaly with characteristics of variable clinical features, depending on the size and precise location of deleted chromosome segments. Most patients present with developmental delay, intellectual disability, growth retardation, microcephaly, clinodactyly and dysmorphic features. Congenital heart disease and genitourinary anomalies are reported in some cases.
?:hasCUIAnnotation
?:hasGeneratedBy
?:type

Metadata

Anon_0  
expand all