Kohlschutter-Tonz syndrome

info · Syndrome

A syndrome characterized by severe global developmental delay, early-onset intractable seizures, spasticity, and amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in ROGDI on chromosome 16p13.3.

Signs and symptoms

Delayed speech and language development
Delayed ability to walk
Seizure
Developmental regression
Cerebral atrophy
Hypsarrhythmia
Cerebellar hypoplasia
Ataxia
Severe intellectual disability
Amelogenesis imperfecta

Also known as: KTZS; Kohlschutter's syndrome; amelocerebrohypohidrotic syndrome; epilepsy and yellow teeth; epilepsy dementia amelogenesis imperfecta