Leukodystrophy - paediatric

Gene: RAB11B

Green List (high evidence)

NDAGSCW is a neurodevelopmental disorder characterized by severely delayed psychomotor development apparent from infancy. Affected individuals have delayed and difficulty walking, intellectual disability, absent speech, and variable additional features, including hip dysplasia, tapering fingers, and seizures. Brain imaging shows decreased cortical white matter, often with decreased cerebellar white matter, thin corpus callosum, and thin brainstem.

Created: 29 May 2021, 10:51 a.m. | Last Modified: 29 May 2021, 10:51 a.m.

Panel Version: 0.222

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter 617807

Green List (high evidence)

5 unrelated cases with de novo variants and brain imaging, performed in 4 patients, showed white matter abnormalities.
Sources: Expert list

Created: 19 Jan 2020, 5:54 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter 617807

Publications

• 29106825