Using whole-exome sequencing, we have identified novel de novo heterozygous pleckstrin homology domain-interacting protein (&lt;i&gt;PHIP&lt;/i&gt;) variants that are predicted to be deleterious, including a frameshift deletion, in two unrelated patients with common clinical features of developmental delay, intellectual disability, anxiety, hypotonia, poor balance, obesity, and dysmorphic features.
C3714756
Intellectual Disability