Neuroscience
Ataxia
50%
Basal Ganglia
50%
Cataract
100%
Differential Diagnosis
50%
Dystonia
50%
Encephalopathy
50%
Exome Sequencing
50%
Hypoplasia
100%
Hypotonia
50%
Magnetic Resonance Imaging of Brain
100%
Microcephaly
50%
Multiprotein Complex
50%
Neurodegeneration
50%
Neurodevelopmental Disorder
100%
Stereotypic Movement Disorder
100%
Keyphrases
Adulthood
11%
Atrophy
11%
Autosomal Recessive
11%
Basal Ganglia
11%
Biallelic
100%
Bilateral Cataract
11%
Brain MRI
22%
Cataract
11%
Cerebellar Atrophy
11%
Cerebellar Hypoplasia
11%
Clinical Features
22%
Clinical Phenotype
11%
Data Sharing
11%
Differential Diagnosis
11%
Dyskinetic
11%
Dystonia
11%
Encephalopathy
11%
Epilepsy
11%
Epileptic
11%
Exome Sequencing
11%
Facial Dysmorphism
11%
Gait Ataxia
11%
Genetic Data
11%
Genotype-phenotype
11%
Genotype-phenotype Correlation
11%
Global Developmental Delay
11%
Independent Families
11%
Infantile Hypotonia
11%
Intellectual Disability
11%
Limb Spasticity
11%
MED27
100%
Microcephaly
11%
Missense
11%
Missense Variants
11%
Movement Abnormality
11%
Movement Disorders
100%
Neurodegeneration
11%
Neurodevelopmental Disorders
22%
Phenotypic Continuum
11%
Ponto
100%
Protein Complex
11%
Radiological Features
11%
Signal Alteration
11%
Spasticity
11%
Transcriptional Regulation
11%
Vermian Hypoplasia
11%
Volume Loss
11%
White Matter Volume
11%
Biochemistry, Genetics and Molecular Biology
Autosomal Recessive Inheritance
50%
Exome Sequencing
50%
Genetics
50%
Genotype Phenotype Correlation
50%
Genotyping
50%
Intellectual Disability
50%
Mediator
50%
Missense
100%
Multiprotein Complex
50%