| Remarks |
Clinically affected; symptom onset at birth; diagnosed at 2 years; mild dysmorphic features: bitemporal narrowing, epicanthal folds, strabismus, high arched narrow palate, and low set simple ears; constipation; delayed motor milestones; speech delay; global developmental delay; whole exome sequencing (WES) revealed a de novo heterozygous c.1738C>T (p.R580W) pathogenic variant in the TCF4 gene; therapies: physical therapy and occupational therapy; family history: two maternal cousins (not in repository) with intellectual disability; unaffected mother is GM25988. |