developmental and epileptic encephalopathy 80

A developmental and epileptic encephalopathy characterized by onset in the first year of life of refractory seizures, severe global developmental delay, and defective synthesis of glycosylphosphatidylinositol that has_material_basis_in homozygous or compound h

A developmental and epileptic encephalopathy characterized by onset in the first year of life of refractory seizures, severe global developmental delay, and defective synthesis of glycosylphosphatidylinositol that has_material_basis_in homozygous or compound heterozygous mutation in the PIGB gene on chromosome 15q21.3.

Signs and symptoms

• Seizure
• Global developmental delay
• Elevated circulating alkaline phosphatase concentration
• Generalized hypotonia
• Peripheral axonal neuropathy
• Hearing impairment
• Sensorimotor neuropathy
• Failure to thrive
• Short distal phalanx of finger
• Hypertelorism

Also known as: DEE80; GPIBD20; early infantile epileptic encephalopathy 80; glycosylphosphatidylinositol biosynthesis defect 20