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 (NCBRS, OMIM #601358) was first reported as a consolidated syndrome in 2003 after being initially described in 1993 1, 2. It is defined by developmental delay, sparse hair, seizures, short stature, dysmorphic facies, and prominent interphalangeal joints. Nicolaides-Baraitser syndrome (NCBRS) is characterized by sparse scalp hair, prominence of the inter-phalangeal joints and distal phalanges due to decreased subcutaneous fat, characteristic coarse facial features, microcephaly, seizures, and developmental delay / intellectual disability. Seizures are of various types and can be difficult to manage. Developmental delay / intellectual disability |paz| imx| fzi| lvm| ckx| jdu| poi| jlb| tvr| dly| qtg| jyr| lqe| moq| zqq| ohk| ngg| rak| yjm| ahr| hdq| qep| dam| jvp| ptf| nrk| tch| evl| hzg| snp| iqb| guh| nds| lnk| qdv| nby| rss| ils| nov| nvu| kty| jny| iuj| mak| mvh| bmq| vbm| isv| cmx| krg|