developmental and epileptic encephalopathy 100

A developmental and epileptic encephalopathy characterized by onset of variable types of seizures in the first months or years of life preceded by global developmental delay that has_material_basis_in heterozygous mutation in the FBXO28 gene on chromosome 1q42

A developmental and epileptic encephalopathy characterized by onset of variable types of seizures in the first months or years of life preceded by global developmental delay that has_material_basis_in heterozygous mutation in the FBXO28 gene on chromosome 1q42.

Signs and symptoms

• Tented upper lip vermilion
• Strabismus
• Seizure
• Hypotonia
• Gastroesophageal reflux
• Short palpebral fissure
• Hypoplastic fingernail
• Single transverse palmar crease
• Intellectual disability
• Obstructive sleep apnea

Also known as: DEE100; early infantile epileptic encephalopathy 100