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chromosome 19p13.13 deletion syndrome

Disease Summary
Associated Targets (6)
Tbio

3

Tchem

2

Tclin

1


Explore Associated Targets
Mondo Description 19p13.13 microdeletion syndrome is a rare partial autosomal monosomy characterized by global developmental delay, moderate intellectual disability, macrocephaly, overgrowth, hypotonia, and facial dysmorphism (frontal bossing, down-slanting palpebral fissures). Other associated features variably include ataxia, seizures, ventriculomegaly, ocular abnormalities (strabismus, optic nerve hypoplasia) and gastrointestinal problems (abdominal pain, vomiting, constipation).
Mondo Term and Equivalent IDs
MONDO:0013336:  chromosome 19p13.13 deletion syndrome
Orphanet:357001: 
SCTID:764440006: 
UMLS:C3150894: 
UMLS:CN204595: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)