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ring chromosome 10

Disease Summary
Associated Targets (0)

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Mondo Description Ring chromosome 10 syndrome is characterized by intellectual deficit, growth retardation, and various dysmorphic features. Less than 20 cases have been described. The main features are low birth weight, microcephaly, stubby nose with a prominent nasal bridge, hypertelorism, strabismus, wide-set nipples, single transverse palmar creases, and clinodactyly. Boys have undescended testes and hypoplastic scrotum. Congenital heart disease, hydronephrosis or renal hypoplasia was present in some of the cases.
Mondo Term and Equivalent IDs
MONDO:0015431:  ring chromosome 10
GARD:0001322: 
MESH:C538086: 
Orphanet:1438: 
SCTID:86997002: 
UMLS:C0265438: 
UMLS:CN037257: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found