Conditions / Syndrome
Luo-Agrawal neurodevelopmental syndrome
info · Syndrome
A syndrome characterized by neurodevelopmental delay, hypotonia, dysmorphic features, and growth restriction with or without structural brain abnormalities that has_material_basis_in homozygous mutation in the WSB2 gene on chromosome 12q24.
Signs and symptoms
- Lethargy
- Moderate intellectual disability
- Hypotonia
- Generalized hypotonia
- Fiber type grouping
- Nystagmus
- Pes planus
- Intellectual disability
- Large earlobe
- EMG: neuropathic changes