Keyphrases
Leukodystrophy
100%
IBA57
100%
Phenotypic Spectrum
37%
Missense Variants
25%
Optic Atrophy
25%
Infantile Onset
25%
Mitochondrial Disease
25%
Periventricular White Matter
25%
Epilepsy
12%
Jewish
12%
Clinical Course
12%
Biallelic
12%
7-year-olds
12%
Jewish Family
12%
Whole Exome Sequencing
12%
Febrile Illness
12%
Biallelic mutations
12%
Cause of Disease
12%
Compound Heterozygous mutation
12%
Rapidly Progressive
12%
Frameshift
12%
Japanese Family
12%
Brain Magnetic Resonance Imaging
12%
Severe Intellectual Disability
12%
In Silico Tools
12%
Hereditary Spastic Paraplegia
12%
Old Japanese
12%
White Matter Involvement
12%
Progressive Spastic Paraparesis
12%
Febrile Convulsion
12%
Young Brother
12%
Adolescent-onset
12%
Spastic Quadriplegia
12%
Developmental Regression
12%
Japanese children
12%
Biallelic Variants
12%
Biochemistry, Genetics and Molecular Biology
Missense
100%
Exome Sequencing
50%
Computer Model
50%
Intellectual Disability
50%
Magnetism
50%
Mitochondrial Disease
50%
Mitochondrial Disorder
50%
Neuroscience
Leukodystrophy
100%
Magnetic Resonance Imaging
33%
Exome Sequencing
33%
Paraplegia
33%
Paraparesis
33%
Mitochondrial Disease
33%
Quadriplegia
33%