Merel is undiagnosed
Merel is undiagnosed
Date of Report


Developmental delay, epilepsy, respiratory tract problems

Gender and year of birth

Female, 2010


Developmental delay, epilepsy, respiratory tract problems

Symptoms / Signs

  • Not able to walk, not able to speak, abnormality of the corpus callosum, respiratory tract problems

Current Treatments

  • Special education, speech therapy, physical therapy, music therapy, medical day care, regular consultations with pediatrician

Prior Treatments

  • Speech therapy. Tried many different medications (e.g. Ritalin was tried by the effect was opposite of that desired), but finding the right medication is difficult without a diagnosis. Parents went to a training program to learn about raising a child with autism.

Considered treatments

  • Not applicable

Previously Considered Diagnoses

  • None

Genetic Variants of Interest

  • CDKL5, MECP2, FOXG1, CHD7, TCF4, MEF2C, NIPBL: negative, SNP array: negative
    Whole exome sequencing (trio): negative. Whole genome sequencing ongoing

Siblings, age & gender

Brother, 14 years


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


My name is M. I am a very happy and joyful girl, currently 9 years old. My brother always makes me laugh. I bring joy and happiness to the family.

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