Pontozerebelläre Hypoplasie Typ 1
Pontocerebellar Hypoplasia Type 1
OMIM: 607596
Synonyme
- PONTOCEREBELLAR HYPOPLASIA WITH INFANTILE SPINAL MUSCULAR ATROPHY
- PONTOCEREBELLAR HYPOPLASIA WITH ANTERIOR HORN CELL DISEASE
Genorte
- VRK1(OMIM 602168)