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Table 1 The MRI findings, neuropsychological development score, genetic analysis report of BRPS infancy patients

From: Bainbridge-ropers syndrome caused by loss-of-function variants in ASXL3: Clinical abnormalities, medical imaging features, and gene variation in infancy of case report

The cerebral MRI findings
Agecerebral sulcus widenedCerebellar atrophyBrainstem thinningCorpus callosum thinningCortical atrophy (sulcal widening)Ventricular dilation(0–3)Subcortical white matter changePeriventricular white matter changeMyelination abnormalityInternal capsule changeSignal change consistent with focal infarctAbnormal signal in basal gangliaOther findings
8 months after birth+++1
The examination table of neuropsychological development
DateBig activity sportFine sportAdaptive capacityLanguage capacitySocial behaviorDevelopment quotient
6 months after birth48.440.356.548.432.345.2
8 months after birth51.338.557.725.625.639.7
Genetic analysis report
GeneChromosomal locationTranscript numberexonNucleotide amino acid• Homozygous/heterozygousNormal frequencyPathogenicity analysisinheritance modeDisease/phenotypeSource of variation
ASXL3chr18:31323304–31,323,306NM_030632exon12c.3493—3494 del (p.C1165fs)het_pathogenicADBainbridge–Ropers syndromeSpontaneity