Galloway-Mowat syndrome
ORPHA:2065· ICD-10 Q04.3
Definition
A rare, genetic multisystem disorder characterized by a neurodegenerative disorder associating global developmental delay, progressive microcephaly, and progressive cerebral and cerebellar atrophy with extrapyramidal involvement, progressive optic atrophy, and in many patients early-onset steroid-resistant nephrotic syndrome.
- Prevalence
- 1-9 / 1 000 000
- Inheritance
- Autosomal recessive, X-linked recessive
- Age of onset
- Childhood, Infancy, Neonatal