Jonne is undiagnosed
Jonne is undiagnosed
Date of Report


Developmental delay of unknown cause

Gender and year of birth

Female, 2001


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


If this participant sounds like you or someone you know, please contact Wilhelm Foundation at


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.

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