Conditions / Syndrome
Harel-Yoon syndrome
info · Syndrome
A syndrome that is characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy and that has_material_basis_in heterozygous mutation in the ATAD3A gene on chromosome 1p36.
Signs and symptoms
- Hypotonia
- Global developmental delay
- Intellectual disability
- Increased circulating lactate concentration
- Peripheral axonal neuropathy
- Reduced brain N-acetyl aspartate level by MRS
- Spasticity
- Inability to walk
- Ataxia
- Axial hypotonia
Also known as: Ocular anomalies-axonal neuropathy-developmental delay syndrome