Kohlschutter-tonz syndrome: Clinical and genetic insights gained from 16 cases deriving from a close-knit village in Northern Israel

Keyphrases

• Druze 100%
• Northern Israel 100%
• Age of Onset 100%
• Mental Deterioration 100%
• ROGDI 100%
• Convulsion 100%
• Amelogenesis Imperfecta 100%
• Per Se 50%
• Medical Records 50%
• Seizure 50%
• Genetic Disease 50%
• Drosophilidae 50%
• Disease Course 50%
• Late Adolescence 50%
• Medical History 50%
• Epilepsy 50%
• Deleterious mutations 50%
• Causative Gene 50%
• Clinical Variability 50%
• Autosomal Recessive 50%
• Spastic 50%
• Cognitive Perception 50%
• Bedridden 50%
• Intellectual Impairment 50%
• Spasticity 50%
• Causative mutation 50%
• Premature Stop Codon 50%
• Mental Impairment 50%
• Language Perception 50%
• Motor Deterioration 50%
• Genes of Unknown Function 50%
• Gastrostomy Tube 50%
• Kindred 50%

Neuroscience

• Mental Deterioration 100%
• Autosomal Recessive Disorder 100%
• Stop Codon 100%
• Intellectual Disability 100%

Pharmacology, Toxicology and Pharmaceutical Science

• Syndrome 100%
• Onset Age 28%
• Amelogenesis Imperfecta 28%
• Deterioration 14%
• Prematurity 14%
• Medical History 14%
• Intellectual Impairment 14%
• Immobility 14%
• Genetic Disorder 14%
• Autosomal Recessive Disorder 14%
• Mental Deterioration 14%
• Spasticity 14%
• Diseases 14%