Homozygosity for a nonsense variant in AIMP2 is associated with a progressive neurodevelopmental disorder with microcephaly, seizures, and spastic quadriparesis

INIS

• mutations 100%
• microcephaly 100%
• children 50%
• diseases 50%
• genes 50%
• humans 50%
• phenotype 50%
• atrophy 50%
• nmr imaging 50%
• spinal cord 50%
• cerebellum 50%
• chromosomes 50%
• refractories 50%
• symmetry 50%
• ganglions 50%
• cerebrum 50%

Biochemistry, Genetics and Molecular Biology

• Mutation 100%
• Homozygosity 100%
• Nested Gene 50%
• Phenotype 50%
• Exome Sequencing 50%
• Mental Retardation 50%
• Magnetic Resonance Imaging 50%

Neuroscience

• Neurodevelopmental Disorder 100%
• Cisterna Magna 50%
• Cerebrum 50%
• Corpus Callosum 50%
• Chromosome 7 50%
• Leukodystrophies 50%