Truncating mutation in intracellular phospholipase A1 gene (DDHD2) in hereditary spastic paraplegia with intellectual disability (SPG54)

Keyphrases

• Intellectual Disability 100%
• Hereditary Spastic Paraplegia 100%
• DDHD2 100%
• Truncating mutation 100%
• SPG54 100%
• Phospholipase A1 100%
• DNA Analysis 20%
• Upper Limb Spasticity 20%
• Spasticity 20%
• Dementia 20%
• Epilepsy 20%
• Neurodegenerative Diseases 20%
• Neurological Disorders 20%
• Lower Limb Spasticity 20%
• Common Region 20%
• Consanguineous Family 20%
• Regions of Homozygosity 20%
• Corpus Callosum Agenesis 20%
• Premature Stop Codon 20%
• Truncated Protein 20%
• Ichthyosis 20%
• Phospholipase Activity 20%
• Phosphoinositide Binding 20%
• Founder Effect 20%
• Neurological Symptoms 20%
• BeadChip 20%
• Childhood-onset 20%
• Chromosome 8 20%
• Exome Sequencing 20%
• Stop-gain mutation 20%
• Lipid Metabolism 20%
• Binding Activity 20%
• Vision Loss 20%
• Illumina 20%

Biochemistry, Genetics and Molecular Biology

• Intellectual Disability 100%
• Phospholipase A1 100%
• Homozygosity 50%
• Exome Sequencing 50%
• DNA Analysis 50%
• Lipid Metabolism 50%
• Phosphoinositide 50%
• Stop Codon 50%
• Founder Effect 50%
• Phospholipase 50%
• Chromosome 8 50%

Neuroscience

• Hereditary Spastic Paraplegia 100%
• Phospholipase A1 100%
• Neurological Disorder 20%
• Neurodegenerative Disorder 20%
• Phosphatidylinositide 20%
• Chromosome 8 20%
• Phospholipase 20%
• Exome Sequencing 20%
• Stop Codon 20%
• Agenesis of the Corpus Callosum 20%
• Metabolic Pathway 20%