autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1

A CADASIL characterized by the onset of neurologic symptoms in infancy or early childhood that has_material_basis_in homozygous or compound heterozygous mutations in the NOTCH3 gene on chromosome 19p13.

Signs and symptoms

• Hemiplegia
• Short stature
• Aphasia
• Caesarean section
• Thin corpus callosum
• Nystagmus
• Sepsis
• Leukodystrophy
• Nausea and vomiting
• Babinski sign