| Remarks |
Clinically affected; symptom onset at birth; diagnosed at 6 years of age; borderline microcephaly; intermittent exotropia; spastic diplegia; fetal pads present on fingers/toes; aplasia of the corpus callosum; pervasive developmental delay; moderate motor delay; stereotypic movements (biting hands); speech delay (receptive language better than expressive-uses some sign language); happy disposition; ADHD; drooling; constipation; normal EEG; genetic testing revealed subject is heterozygous for a nonsense mutation in the TCF4 gene (c.520C>T, p.Arg174X); medications: Amantadine, Tenex; Risperdal; therapies: speech therapy, special education; same subject as GM26038 (fibroblast) and GM27270 (stem cell). |