Conditions / Genetic
developmental and epileptic encephalopathy 115
info · Genetic
A developmental and epileptic encephalopathy that is characterized by severe developmental delay and epileptic encephalopathy, massive reduction of white matter, hypo-/aplasia of the corpus callosum, neurodevelopmental arrest, and early death and that has_mate
A developmental and epileptic encephalopathy that is characterized by severe developmental delay and epileptic encephalopathy, massive reduction of white matter, hypo-/aplasia of the corpus callosum, neurodevelopmental arrest, and early death and that has_material_basis_in homozygous or compound heterozygous mutation in the SNF8 gene on chromosome 17q21.
Signs and symptoms
- Dysphagia
- Feeding difficulties
- Cerebellar atrophy
- Leukoencephalopathy
- Hypotonia
- Optic nerve hypoplasia
- Nystagmus
- Global brain atrophy
- Global developmental delay
- Tube feeding