| Remarks |
Clinically affected; Same individual as GM26580 (fibroblast); Diagnosed at 8 years of age; Onset of symptoms at birth; Broad nasal bridge; Wide open mouth; Tented/cupid bowed upper lip; Widely spaced teeth; Thick, fleshy lips; Slender/small hands and feet; Absent or sparse speech; Hypotonia; Limited walking ability; Unstable/ataxic gait; Delayed motor development; Incoordination; Strabismus; Defective vision; Abnormal breathing patterns; Apnea; Constipation; Intellectual disability; Stereotypical movements; Happy personality; Autism; Sensory processing disorder; Sequencing found c.1726C>T (p.Arg576X) mutation in the TCF4 gene on chromosome 18q21.2; Assistive devices: wheelchair, orthotics, glasses, communication/learning device; Treatment and management: Physical therapy, occupational therapy, speech therapy, and special education services. |