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chromosome 5p13 duplication syndrome

Disease Summary
Associated Targets (1)
Tbio

1


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Mondo Description 5p13 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes).
Mondo Term and Equivalent IDs
MONDO:0013169:  chromosome 5p13 duplication syndrome
MESH:C567717: 
Orphanet:329802: 
UMLS:C2750805: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)