Conditions / Genetic
complex cortical dysplasia with other brain malformations 12
info · Genetic
A complex cortical dysplasia with other brain malformations characterized by severe to profound neurodevelopmental delay with absent speech, central hypotonia, peripheral spasticity, cortical visual impairment, and dysmorphic craniofacial features that has_mat
A complex cortical dysplasia with other brain malformations characterized by severe to profound neurodevelopmental delay with absent speech, central hypotonia, peripheral spasticity, cortical visual impairment, and dysmorphic craniofacial features that has_material_basis_in homozygous or compound heterozygous mutations in the CAMSAP1 gene on chromosome 9q34.
Signs and symptoms
- Hypotonia
- Agenesis of corpus callosum
- Dysgenesis of the basal ganglia
- Cerebral visual impairment
- Pachygyria
- Hyperreflexia
- Wide nasal bridge
- Cerebellar hypoplasia
- Feeding difficulties
- Global developmental delay
Also known as: CDCBM12