Conditions / Syndrome
Birk-Barel syndrome
info · Syndrome
A syndrome that is characterized by intellectual disability, hypotonia, hyperactivity and facies, has_material_basis_in heterozygous mutation in the KCNK9 gene on chromosome 8q24.
Signs and symptoms
- Narrow forehead
- Global developmental delay
- Feeding difficulties in infancy
- Microretrognathia
- Short philtrum
- Tented upper lip vermilion
- Long eyelashes
- Highly arched eyebrow
- Dysphagia
- Hypotonia
Also known as: Birk-Barel mental retardation dysmorphism syndrome