We got our whole exome results back and our daughter (16 months old) has a deletion of 12p12.1p11.22. She's missing KRAS, SOX5, and PTHLH. The named syndrome for a SOX5 deletion is Lamb-Shaffer Syndrome. Our neurodevelopmental pediatrician doesn't think anything about her therapies should change right now (weekly PT/OT/ST) , but I think she might benefit from more speech therapy.

We pursued exome sequencing due to her acquired microcephaly and some concerning eye behavior we thought was seizures, as well as gross motor and speech delays. Her head ultrasound, EEG, and MRI were all unremarkable.

Just posting in case this is helpful to anyone else who is dealing with similar issues.