Conditions / Syndrome
Yoon-Bellen neurodevelopmental syndrome
info · Syndrome
A syndrome characterized by onset in the first decade of highly variable neurodevelopmental phenotypes including global developmental delay, intellectual disability, seizures, hearing and visual problems, and ataxia that has_material_basis_in homozygous or com
A syndrome characterized by onset in the first decade of highly variable neurodevelopmental phenotypes including global developmental delay, intellectual disability, seizures, hearing and visual problems, and ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the OGDHL gene on chromosome 10q11.23.
Signs and symptoms
- Inability to walk
- Ataxia
- Failure to thrive
- Ventriculomegaly
- Microcephaly
- Severe global developmental delay
- Spasticity
- Global developmental delay
- Bilateral tonic-clonic seizure
- Hearing impairment
Also known as: YOBELN