Hepatic manifestations in VPS53-related pontocerebellar hypoplasia type 2E: a case report [0.03%]
VPS53相关桥脑小脑萎缩2E型的肝表现：病例报告
Auriane Mouchez,Célia Hoebeke,Béatrice Desnous et al.
Auriane Mouchez et al.
Pathogenic variants in VPS53 are associated with pontocerebellar hypoplasia type 2E (PCH2E), characterized by microcephaly, severe neurodevelopmental impairment and epilepsy. We present a case of a female neonate with VPS53 pathogenic varia...
Gareth Baynam,Joanne Siffleet,Theresa Abbott et al.
Gareth Baynam et al.
Rare and undiagnosed diseases collectively represent a global health priority, presenting distinct challenges for healthcare systems due to their low prevalence, cumulative frequency, and complex care requirements. The impact of rare and un...
Khaled Osman,Ayman Asaly,Rana Halloun et al.
Khaled Osman et al.
Background: Ulnar mammary syndrome (UMS) is an autosomal dominant disorder caused by heterozygous pathogenic variants in the T-box transcription factor 3 (TBX3) gene. The phenotype is classically characterized by upper li...
Brain calcification in congenital heart defects and ectodermal dysplasia (CHDED) [0.03%]
先天性心脏病和外胚层发育不良（CHDED）中的脑钙化
Daisuke Watanabe,Yohei Hasebe,Hideaki Yagasaki et al.
Daisuke Watanabe et al.
Congenital Heart Defect and Ectodermal Dysplasia (CHDED) is an autosomal dominant disorder caused by the PRKD1 gene. CHDED is characterized by heart defects and ectodermal dysplasia. To date, eight patients with CHDED have been described. C...
Phenotypic variability in a family with an inherited KAT6A frameshift variant [0.03%]
KAT6A框移变异所致遗传性异常表型家族系谱分析
Sidsel Bjerg Ringsted,Sara Markholt,Lotte Andreasen et al.
Sidsel Bjerg Ringsted et al.
KAT6A syndrome or Arboleda-Tham Syndrome (ARTHS; OMIM #616268) is a syndromic neurodevelopmental disorder mainly presenting with variable degrees of intellectual disability (ID) and developmental delay (DD), especially speech delay, hypoton...
Heterozygous inversion on chromosome 17 involving PAFAH1B1 detected by whole genome sequencing in a patient suffering from pachygyria [0.03%]
全基因组测序发现一名巨回患者17号染色体PAFAH1B1杂合倒位突变
Jun Chen,Xiao-Ping Li,Guang-Jin Luo et al.
Jun Chen et al.
Lissencephaly (LIS) is a subtype of malformations of cortical development (MCD), characterized by smooth brain surfaces and underdeveloped gyri and sulci. This study investigates the genetic cause of pachygyria in a Chinese male infant diag...
CHD3-related Snijders Blok-Campeau syndrome with Spastic Paraplegia, Ataxia, and Situs Inversus [0.03%]
CHD3相关的Snijders-Blok-Campeau综合征伴双下肢痉挛性瘫痪、共济失调和内脏反位
Lin Chen,Yanjiao Bu,Yuwen Yu et al.
Lin Chen et al.
The Chromodomain Helicase DNA-binding (CHD) protein family is ATP-dependent chromatin remodeling proteins that utilize energy produced by ATP hydrolysis to regulate chromatin structure and thereby modulate gene expression. The earliest repo...
NONO-related X-linked intellectual disability syndrome: Further clinical and molecular delineation [0.03%]
非诺综合征的相关X连锁智能障碍综合症的临床及分子特征进一步阐明
Pauline Planté-Bordeneuve,Simon Boussion,Roseline Caumes et al.
Pauline Planté-Bordeneuve et al.
The X-linked NONO gene encodes Non-Pou Domain-Containing Octamer-Binding Protein, a multifunctional member of the DBHS family involved in transcriptional regulation, RNA splicing and DNA repair. Pathogenic variants in NONO cause Intellectua...
Molecular and clinical Insights into KMT2E-Related O'Donnell-Luria-Rodan syndrome in a novel patient cohort [0.03%]
KMT2E相关O'Donnell-Luria-Rodan综合征的分子和临床特征在一组新患者中的研究
Davide Vecchio,Filippo M Panfili,Marina Macchiaiolo et al.
Davide Vecchio et al.
O'Donnell-Luria-Rodan (ODLURO) syndrome is an autosomal dominant neurodevelopmental disorder mainly characterized by global development delay/intellectual disability, white matter abnormalities, and behavioral manifestations. It is caused b...
Catalogue of inherited autosomal recessive disorders found amongst the Roma population of Europe [0.03%]
欧洲罗姆人的自体显性隐性疾病目录
Shauna Quinn,Nicola Walsh,Ioana Streata et al.
Shauna Quinn et al.
Background: The Roma population are an endogamous, genetically isolated, minority population who migrated from North-Western India to Europe from the 10th Century throughout the Byzantine period and continues to the prese...