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chromosome 19q13.11 deletion syndrome

Disease Summary
Associated Targets (1)
Tdark

1


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Mondo Description The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails.
Mondo Term and Equivalent IDs
MONDO:0013090:  chromosome 19q13.11 deletion syndrome
GARD:0010592: 
MESH:C567810: 
Orphanet:217346: 
SCTID:719599008: 
UMLS:C2751651: 
UMLS:C4304577: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)