Description
Since 6 months of age, the parents noticed that she did not react to sound and had blue eyes. Later, it became apparent to them that she doesn’t hear.
Symptoms / Signs
- Profound hearing impairment, skin depigmentation, blue eyes, and dystopia canthorum.
Current Treatments
- No medication
Prior Treatments
- No medication
Considered treatments
- No medication
Previously Considered Diagnoses
- Waardenburg syndrome type I
Genetic Variants of Interest
- EDN3, EDNRB, MITF, PAX3, SNAI2, and SOX10
Siblings, age & gender
Four sisters and two brothers all unaffected
Contact
If this participant sounds like you or someone you know, please contact Wilhelm Foundation at info@wilhelmfoundation.org
Bio
Lala is a 13-year old girl, born in Bamako, Mali. She loves studying and playing games with friends, and cooking. She brings happiness and joy to her family.
