Conditions / Genetic
X-linked congenital hydrocephalus
info · Genetic
A congenital hydrocephalus that has_material_basis_in homozygous mutation in the L1CAM gene on chromosome Xq28. Additional features include stenosis of the aqueduct of Sylvius, adducted thumbs, spastic paraparesis and impaired intellectual development.
Signs and symptoms
- Hydrocephalus
- Thumb contracture
- Intellectual disability
- Absent septum pellucidum
- Agenesis of corpus callosum
- Corticospinal tract hypoplasia
- Macrocephaly
- Aqueductal stenosis
- Spastic paraplegia
- Spasticity
Also known as: X-linked hydrocephalus