Conditions / Syndrome
neurodevelopmental disorder with hypotonia and speech delay
info · Syndrome
A syndrome characterized by global developmental delay, impaired intellectual development with poor or absent speech, and fine and gross motor delay that has_material_basis_in heterozygous or compound heterozygous mutation in the EIF4A2 gene on chromosome 3q27
A syndrome characterized by global developmental delay, impaired intellectual development with poor or absent speech, and fine and gross motor delay that has_material_basis_in heterozygous or compound heterozygous mutation in the EIF4A2 gene on chromosome 3q27.3.
Signs and symptoms
- Epicanthus
- Bilateral tonic-clonic seizure
- Mild intellectual disability
- Hearing impairment
- Short stature
- Seizure
- Sagittal craniosynostosis
- Diminishment of social interactions
- Narrow mouth
- Hypotonia
Also known as: NEDHSS