Conditions / Genetic
developmental and epileptic encephalopathy 95
info · Genetic
A developmental and epileptic encephalopathy characterized by severely impaired global development, hypotonia, weakness, ataxia, coarse facial features, and intractable seizures that has_material_basis_in homozygous or compound heterozygous mutation in the PIG
A developmental and epileptic encephalopathy characterized by severely impaired global development, hypotonia, weakness, ataxia, coarse facial features, and intractable seizures that has_material_basis_in homozygous or compound heterozygous mutation in the PIGS gene on chromosome 17q11.
Signs and symptoms
- Inability to walk
- Seizure
- Ataxia
- Generalized hypotonia
- Macroglossia
- Highly arched eyebrow
- Absent speech
- Feeding difficulties
- Global developmental delay
- Clinodactyly of the 5th finger
Also known as: DEE95; early infantile epileptic encephalopathy 95