NEWS - Neonatal Encephalopathy with Seizures/Poodle

Race liée: 

Brain disease

Description: 
Abnormal development and structure of the cerebellum
Symptomes: 
Poor growth, muscle weakness, whole-body tremors, ataxia, tonic-clonic seizures, death usually occurs in first week of life
Age d'aparition: 
From birth
Fréquence: 
Not available
Gène impliqué: 
ATF2
Mutation testée: 
c.152T>G
Transmission: 
Autosomal Recessive
Brevet: 
-