neurodevelopmental disorder with speech delay and behavioral abnormalities

An autosomal dominant intellectual developmental disorder characterized by delayed motor, speech, and/or cognitive development beginning in infancy or early childhood and behavioral abnormalities that has_material_basis_in heterozygous mutation in the UBR5 gen

An autosomal dominant intellectual developmental disorder characterized by delayed motor, speech, and/or cognitive development beginning in infancy or early childhood and behavioral abnormalities that has_material_basis_in heterozygous mutation in the UBR5 gene on chromosome 8q22.

Signs and symptoms

• Epicanthus
• Hypotropia
• Woolly hair
• Mild intellectual disability
• Moderate intellectual disability
• Dystonia
• Hypotonia
• Dyslexia
• Unilateral cryptorchidism
• Infantile spasms

Also known as: NEDSBH