A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3

Medicine and Dentistry

• Fibrosis 100%
• Extraocular Muscle 100%
• Amino Acid Substitution 100%
• Tubulin 100%
• Kallmann Syndrome 100%
• Vomiting 66%
• Disease 33%
• Oculomotor Nerve 33%
• Clinician 33%
• Clinical Feature 33%
• Missense Mutation 33%
• Peripheral Neuropathy 33%
• Polyneuropathy 33%
• Binding Site 33%
• Corpus Callosum 33%
• Genotype Phenotype Correlation 33%
• Developmental Delay 33%
• Protein 33%
• Cranial Nerve 33%
• Midface Hypoplasia 33%
• Electrophysiology 33%
• Facial Nerve 33%
• Hypogonadotropic Hypogonadism 33%
• Kinesin 33%
• Vocal Cord Paresis 33%
• Tracheomalacia 33%
• Intellectual Disability 33%
• Axon Guidance 33%
• Facial Weakness 33%
• Anosmia 33%
• Olfactory Bulb 33%
• Möbius Syndrome 33%
• Anterior Commissure 33%
• Motor Protein 33%
• Congenital Strabismus 33%

Biochemistry, Genetics and Molecular Biology

• Amino Acid Substitution 100%
• Tubulin 100%
• TUBB3 100%
• Missense Mutation 14%
• Genetics 14%
• Binding Site 14%
• Intellectual Disability 14%
• Genotype Phenotype Correlation 14%
• Electrophysiology 14%
• Kinesin 14%
• Molecular Motor 14%
• Motor Protein 14%
• Axon Guidance 14%

Keyphrases

• TUBB3 E410K Syndrome 75%
• Cyclic Vomiting Syndrome 50%