The desmosterolosis phenotype: Spasticity, microcephaly and micrognathia with agenesis of corpus callosum and loss of white matter

Keyphrases

• Microcephaly 100%
• Spasticity 100%
• Corpus Callosum Agenesis 100%
• White Matter 100%
• Micrognathia 100%
• Desmosterolosis 100%
• Desmosterol 66%
• DHCR24 66%
• Bedouin 33%
• Disease-associated 33%
• Tissue Cells 33%
• Plasma Tissue 33%
• Convulsion 33%
• Chromosome 1 33%
• Brain MRI 33%
• Failure to Thrive 33%
• Clinical Entities 33%
• Autosomal Recessive 33%
• LOD Score 33%
• Consanguineous 33%
• Fine Mapping 33%
• Cultured Cells 33%
• Kindred 33%
• Nystagmus 33%
• Sporadic Cases 33%
• Strabismus 33%
• Homozygous Missense mutation 33%
• Psychomotor Retardation 33%
• Plasma Cells 33%
• Multipoint 33%
• Genome-wide Linkage Analysis 33%
• Hand Contracture 33%
• Cholesterol Precursors 33%

Medicine and Dentistry

• Spasticity 100%
• Microcephaly 100%
• Micrognathism 100%
• Corpus Callosum Agenesis 100%
• Desmosterol 100%
• Disease 33%
• Childbirth 33%
• Chromosome 1 33%
• Linkage Analysis 33%
• Failure to Thrive 33%
• Cell Culture 33%
• Precursor 33%
• Missense Mutation 33%
• Autosomal Recessive Disorder 33%
• Plasma Cell 33%
• Magnetic Resonance Imaging of Brain 33%
• Strabismus 33%
• Oxidoreductase 33%
• Contracture 33%
• Psychomotor Retardation 33%

Biochemistry, Genetics and Molecular Biology

• Desmosterol 100%
• Candidate Gene 50%
• Oxidoreductase 50%
• Cell Culture 50%
• Precursor 50%
• Missense Mutation 50%
• Chromosome 1 50%
• Linkage Analysis 50%
• Autosomal Recessive Disorder 50%
• Reductase 50%
• Plasma Cell 50%
• 7-Dehydrocholesterol 50%