You are using an outdated browser. Please upgrade your browser to improve your experience.
chromosome 10q23 deletion syndrome
Disease Summary
Associated Targets ()
Mondo Description 10q22.3q23.3 microdeletion syndrome is a rare partial autosomal monosomy characterized by a mild facial dysmorphism variably including macrocephaly, broad forehead, hypertelorism or hypotelorism, deep-set eyes, upslanting or downslanting palpebral fissures, low-set ears, flat nasal bridge, smooth philtrum, thin upper lip), cleft palate, cerebellar and cardiac malformations, psychomotor development delay, and behavioral abnormalities (attention deficit hyperactivity disorder, autism). Other rare features may include congenital breast aplasia, arachnodactyly, joint hyperlaxity, club feet, feeding difficulties, failure to thrive.
Download Data for chromosome 10q23 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.
DOID:0060389
GARD:0013018
MESH:C567385
OMIM:612242
Orphanet:276413
UMLS:C2677102
UMLS:CN202618
MONDO:0012830
High level summary of knowledge for a disease, including descriptions and datasource references.