neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities

An autosomal recessive intellectual developmental disorder that is characterized by the onset of features in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the INTS11 gene on chromosome 1p36.

Signs and symptoms

• Epicanthus
• Sloping forehead
• Astigmatism
• Strabismus
• Mild intellectual disability
• Narrow palate
• Delayed CNS myelination
• Seizure
• Cerebellar atrophy
• Hypotonia