Conditions / Nervous system
spastic quadriplegic cerebral palsy 2
info ยท Nervous system
A spastic quadriplegic cerebral palsy that has_material_basis_in deletion of the ANKRD15 gene (KANK1) inherited on the paternal allele.
Signs and symptoms
- Spastic tetraplegia
- Cerebral atrophy
- Nystagmus
- Hypotonia
- Cerebral palsy
- Ventriculomegaly
- Intellectual disability