|Signs and Symptoms||Approximate number of patients (when available)|
|Abnormality of the cranial nerves||90%|
|Highly arched eyebrow||90%|
|Abnormality of the sense of smell||7.5%|
|Thick lower lip vermilion||7.5%|
|Abnormality of the foot||-|
|Autosomal recessive inheritance||-|
|Cutaneous finger syndactyly||-|
|Frontalis muscle weakness||-|
|Intellectual disability, borderline||-|
|Weak extraocular muscles||-|
|Wide nasal bridge||-|
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.