Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
ORPHA:500144· ICD-10 Q07.8
Definition
A rare, genetic neurological disorder characterized by early-onset severe global developmental delay with regression, congenital or acquired microcephaly, hearing loss, truncal hypotonia, appendicular spasticity, and dystonia and/or myoclonus.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal