ReNU syndrome

An autosomal dominant intellectual developmental disorder characterized by hypotonia, global developmental delay, severely impaired intellectual development with poor or absent speech, delayed walking or inability to walk, feeding difficulties with poor overal

An autosomal dominant intellectual developmental disorder characterized by hypotonia, global developmental delay, severely impaired intellectual development with poor or absent speech, delayed walking or inability to walk, feeding difficulties with poor overall growth, seizures (in most), dysmorphic facial features, and brain anomalies, including ventriculomegaly, thin corpus callosum, and progressive white matter loss that has_material_basis_in heterozygous mutation in the RNU4-2 gene on chromosome 12q24.

Signs and symptoms

• Motor delay
• Anxiety
• Delayed speech and language development
• Gait disturbance
• Self-injurious behavior
• Intellectual disability
• Global developmental delay
• Thin corpus callosum
• Microcephaly
• Restricted or repetitive behaviors or interests

Also known as: neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language (NEDHAFA)