You are using an outdated browser. Please upgrade your browser to improve your experience.
8p inverted duplication/deletion syndrome
Disease Summary
Associated Targets ()
Mondo Description 8p inverted duplication/deletion [invdupdel(8p)] syndrome is a rare chromosomal anomaly characterized clinically by mild to severe intellectual deficit, severe developmental delay (psychomotor and speech development), hypotonia with tendency to develop progressive hypertonia and severe orthopedic problems over time, minor facial anomalies and agenesis of the corpus callosum.
Download Data for 8p inverted duplication/deletion syndrome
data still loading...
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
Orphanet:96092
SCTID:718188007
UMLS:CN206812
MONDO:0019876
High level summary of knowledge for a disease, including descriptions and datasource references.