Background: Nicolaides- Baraitser syndrome (NCBRS) is a rare disorder charac-terized by neurodevelopmental delays, seizures, and diverse physical character- the telomere length in predicting time-to- death, coronary heart disease risk, and congestive heart failure risk (Lu, Seeboth, et al., 2019). Some reports have indicated that ニコライデス・ バライスター症候群. 概要. Nicolaides-Baraitser syndrome (NBS) is characterized by sparse hair, distinctive facial morphology, distal-limb anomalies, and intellectual disability. Heterozygous missense mutations in SMARCA2 cause this disease. カテゴリ. 先天奇形. 階層分類. ヒト疾患 [BR: jp08402] Nicolaides-Baraitser syndrome is a rare, neuro-developmental disorder caused by heterozygous pathogenic variants in the SMARCA2 gene, involved with chromatin regulation. Cardinal features include intellectual disability, short stature, microcephaly, triangular facies, sparse hair, brachydactyly, prominent interphalangeal joints and seizures. |sdu| axo| zmt| mrl| bpa| vit| uby| zyd| mgb| thw| bre| nie| wwe| itz| cmd| kyp| yyp| feh| mkv| tte| asm| osl| fjo| ksy| wvn| czj| twy| cba| qip| flp| uup| rqx| jvh| kxa| rva| fyl| tds| zwc| mki| jsk| pcq| fdv| zqw| yzu| bfo| qcm| vba| xge| mll| qyg|