developmental and epileptic encephalopathy 85

A developmental and epileptic encephalopathy characterized by onset of severe refractory seizures in the first year of life, global developmental delay with impaired intellectual development and poor or absent speech, and dysmorphic facial features that has_ma

A developmental and epileptic encephalopathy characterized by onset of severe refractory seizures in the first year of life, global developmental delay with impaired intellectual development and poor or absent speech, and dysmorphic facial features that has_material_basis_in heterozygous mutation in the SMC1A gene on chromosome Xp11.

Signs and symptoms

• Bilateral tonic-clonic seizure
• Short foot
• Seizure
• Short nose
• Gastroesophageal reflux
• Generalized hypotonia
• Infantile spasms
• Dental crowding
• Round face
• Retrognathia

Also known as: DEE85; early infantile epileptic encephalopathy 85