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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.
Mondo Term and Equivalent IDs
MONDO:0012830:  chromosome 10q23 deletion syndrome
GARD:0013018: 
MESH:C567385: 
Orphanet:276413: 
UMLS:C2677102: 
UMLS:CN202618: