neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter

An autosomal dominant intellectual developmental disorder characterized by severely delayed psychomotor development apparent from infancy including delayed and difficulty walking, intellectual disability, and absent speech; decreased cortical white matter ofte

An autosomal dominant intellectual developmental disorder characterized by severely delayed psychomotor development apparent from infancy including delayed and difficulty walking, intellectual disability, and absent speech; decreased cortical white matter often with other brain anomalies; and variable additional features including hip dysplasia, tapering fingers, and seizures that has_material_basis_in heterozygous mutation in the RAB11B gene on chromosome 19p13.

Signs and symptoms

• Hypoplasia of the brainstem
• Thin corpus callosum
• Ventriculomegaly
• Intellectual disability
• Cerebellar vermis hypoplasia
• Broad-based gait
• Absent speech
• Delayed ability to walk
• Gait disturbance
• Global developmental delay

Also known as: NDAGSCW