DISEASE: Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures
Entry
H02861 Disease
Name
Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures
Description
Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures (NEDSBAS) is caused by homozygous mutations in the WDR45B gene and is characterized by profound developmental delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
LD90 Conditions with disorders of intellectual development as a relevant clinical feature
H02861 Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06532 Autophagy
H02861 Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures
