Gender and year of birth
Female, 2001
Description
Developmental delay of unknown cause
Symptoms / Signs
- Delayed motor development (delayed first steps and walking), absent speech, scoliosis requiring surgery, surgery on both feet because of hypotonia, using orthopedic shoes
Current Treatments
- Speech therapy, physical therapy, music therapy, dolphin therapy, special education, orthoses
Prior Treatments
- Scoliosis surgery, surgery on both feet to help with walking
Considered treatments
- Not applicable
Previously Considered Diagnoses
- Fragile X syndrome, Angelman syndrome, Prader-Willi syndrome, Rett syndrome
Genetic Variants of Interest
- DOLPP1; Chr9(GRCh37):g.131849013C>T; NM_020438.4:c.616C>T
(p.(Arg206*)); heterozygous DE NOVO (variant of unknown significance). Metabolic screen negative. WGS ongoing
Siblings, age & gender
Brother, 22 years
Sister, 20 years
Contact
If this participant sounds like you or someone you know, please contact Wilhelm Foundation at info@wilhelmfoundation.org
Bio
I am J, I am already 18 years old and I am not able to speak, but my emotions are well developed. I am sensitive to how others feel. I like when people treat me according to my age and really see who I am. I love music and have a strong sense of humor.
