Summary

46 Potocki-lupski syndrome (ptls) is a genetic disorder characterized by the presence of an extra copy of a tiny portion of chromosome 17 (duplication of 17p11.2). people with this duplication often have low muscle tone, poor feeding, and failure to thrive during infancy. they may also present with delayed development of motor and verbal milestones. in addition, many individuals display some behaviors commonly associated with autism spectrum disorders. while most cases of potocki-lupski syndrome occur sporadically, in rare cases, it may be inherited. treatment involves physical, occupational, and speech therapy

All SNPs

Disease Hierarchy

Disease Interacts with Genes

Disease Interacts with Substances

Processes Associated With Trait

Symptoms Associated With Trait