autosomal recessive brain small vessel disease 2B

A brain small vessel disease characterized by the onset of neurologic abnormalities in infancy or the first years of life, including global developmental delay, impaired intellectual development with poor or absent speech, seizures, and spastic quadriplegia th

A brain small vessel disease characterized by the onset of neurologic abnormalities in infancy or the first years of life, including global developmental delay, impaired intellectual development with poor or absent speech, seizures, and spastic quadriplegia that has_material_basis_in homozygous or compound heterozygous mutation in the COL4A2 gene on chromosome 13q34.

Signs and symptoms

• Poor head control
• Inability to walk
• Strabismus
• Cerebral cortical atrophy
• Hypotonia
• Nystagmus
• Cerebral visual impairment
• Absent speech
• Delayed speech and language development
• Delayed ability to walk