| Remarks |
Clinically affected; heterozygous for a missense de novo variant of unknown significance c.1841C>T (p.A614V) in exon 18 of TCF4 gene; homozygous for benign variant IVS8+137G>A in ZEB2 gene; onset of symptoms at 9 months of age when milestones were not met; diagnosed at 2 years of age; tested for: urine creatinine, plasma amino acids profile is unremarkable, normal acyclcarnitine profile, and normal urine organic acid; normal methylation pattern in AS critical region; negative for CGG repeat expansion in FMR1 gene; tested by karyotyping and microarray; treatment and management: physical therapy, occupational therapy, orthotics, speech language therapy (regularly, 1+ x/week); eye surgery to correct strabismus; same subject as GM26068 (LCL). |