germline variants result in aberrant neurodevelopment and growth.

Protein-tyrosine phosphatases (PTPs) are pleomorphic regulators of eukaryotic cellular responses to extracellular signals that function by modulating the phosphotyrosine of specific proteins. A handful of PTPs have been implicated in germline and somatic human disease. Using exome sequencing, we identified missense and truncating variants in in six unrelated individuals with varying degrees of intellectual disability or developmental delay.