Ramond-Elliott neurodevelopmental syndrome

An autosomal dominant intellectual developmental disorder characterized by global developmental delay, hypotonia, delayed walking or inability to walk, impaired intellectual development that is usually severe, and poor or absent speech that has_material_basis_

An autosomal dominant intellectual developmental disorder characterized by global developmental delay, hypotonia, delayed walking or inability to walk, impaired intellectual development that is usually severe, and poor or absent speech that has_material_basis_in heterozygous mutation in the TRA2B gene on chromosome 3q27.

Signs and symptoms

• Nephrocalcinosis
• Gait ataxia
• Generalized hypotonia
• Moderate global developmental delay
• Macroglossia
• Intellectual disability
• Patchy alopecia
• 2-3 toe syndactyly
• Maintenance insomnia
• Profound global developmental delay