Conditions / Nervous system
Athabaskan brainstem dysgenesis syndrome
info · Nervous system
A brain disease that is characterized by brainstem dysgenesis, has_material_basis_in homozygous mutations in the HOXA1 gene.
Signs and symptoms
- Sensorineural hearing impairment
- Internal carotid artery hypoplasia
- Delayed gross motor development
- Horizontal supranuclear gaze palsy
- Duane anomaly
- Central hypoventilation
- Seizure
Also known as: NAVAJO BRAINSTEM SYNDROME