Síndrome de nefronoptisis familiar del adulto-quadriparesia espástica
ORPHA:2666· ICD-10 Q61.8· Adult familial nephronophthisis-spastic quadriparesia syndrome
Definición
A rare, genetic, renal disease characterized by the association of familial adult medullary cystic disease with spastic quadriparesis. There have been no further descriptions in the literature since 1990.
- Prevalencia
- <1 / 1 000 000
- Herencia
- Unknown
- Edad de inicio
- Adult