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Quoted phrase not found in phrase index: "Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities"
Page 1
Chromosome 15q24 microdeletion syndrome.
Magoulas PL, El-Hattab AW. Magoulas PL, et al. Orphanet J Rare Dis. 2012 Jan 4;7:2. doi: 10.1186/1750-1172-7-2. Orphanet J Rare Dis. 2012. PMID: 22216833 Free PMC article. Review.
Other common findings include skeletal and digital abnormalities, genital abnormalities in males, hypotonia, behavior problems, recurrent infections, and eye problems. Other less frequent findings include hearing loss, growth hormone deficiency, hernias, and …
Other common findings include skeletal and digital abnormalities, genital abnormalities in males, hypotonia, behavior p …
Exome sequencing in a child with neurodevelopmental disorder and epilepsy: Variant analysis of the AHNAK2 gene.
Vinci M, Kursula P, Greco D, Elia M, Vetri L, Schepis C, Chiavetta V, Donadio S, Roccella M, Carotenuto M, Romano V, Calì F. Vinci M, et al. Mol Genet Genomic Med. 2022 Sep;10(9):e2012. doi: 10.1002/mgg3.2012. Epub 2022 Jul 5. Mol Genet Genomic Med. 2022. PMID: 35789128 Free PMC article.
BACKGROUND: The AHNAK2 gene encodes a large nucleoprotein expressed in several tissues, including brain, squamous epithelia, smooth muscle, and neuropil. Its role in calcium signaling has been suggested and to date, clear evidence about its involvement in the pathog …
BACKGROUND: The AHNAK2 gene encodes a large nucleoprotein expressed in several tissues, including brain, squamous epithelia, smooth …
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.
Reijnders MRF, Janowski R, Alvi M, Self JE, van Essen TJ, Vreeburg M, Rouhl RPW, Stevens SJC, Stegmann APA, Schieving J, Pfundt R, van Dijk K, Smeets E, Stumpel CTRM, Bok LA, Cobben JM, Engelen M, Mansour S, Whiteford M, Chandler KE, Douzgou S, Cooper NS, Tan EC, Foo R, Lai AHM, Rankin J, Green A, Lönnqvist T, Isohanni P, Williams S, Ruhoy I, Carvalho KS, Dowling JJ, Lev DL, Sterbova K, Lassuthova P, Neupauerová J, Waugh JL, Keros S, Clayton-Smith J, Smithson SF, Brunner HG, van Hoeckel C, Anderson M, Clowes VE, Siu VM, Ddd Study T, Selber P, Leventer RJ, Nellaker C, Niessing D, Hunt D, Baralle D. Reijnders MRF, et al. J Med Genet. 2018 Feb;55(2):104-113. doi: 10.1136/jmedgenet-2017-104946. Epub 2017 Nov 2. J Med Genet. 2018. PMID: 29097605 Free PMC article. Review.
BACKGROUND: De novo mutations in PURA have recently been described to cause PURA syndrome, a neurodevelopmental disorder characterised by severe intellectual disability (ID), epilepsy, feeding difficulties and neonatal hypotonia. ...Epilepsy (54%) and gastroi …
BACKGROUND: De novo mutations in PURA have recently been described to cause PURA syndrome, a neurodevelopmental disorder chara …
RSRC1 mutation affects intellect and behaviour through aberrant splicing and transcription, downregulating IGFBP3.
Perez Y, Menascu S, Cohen I, Kadir R, Basha O, Shorer Z, Romi H, Meiri G, Rabinski T, Ofir R, Yeger-Lotem E, Birk OS. Perez Y, et al. Brain. 2018 Apr 1;141(4):961-970. doi: 10.1093/brain/awy045. Brain. 2018. PMID: 29522154
RSRC1, whose polymorphism is associated with altered brain function in schizophrenia, is a member of the serine and arginine rich-related protein family. Through homozygosity mapping and whole exome sequencing we show that RSRC1 mutation causes an autosomal recessive syndr …
RSRC1, whose polymorphism is associated with altered brain function in schizophrenia, is a member of the serine and arginine rich-rel …
Genotype-phenotype spectrum and correlations in Xia-Gibbs syndrome: Report of five novel cases and literature review.
Romano F, Falco M, Cappuccio G, Brunetti-Pierri N, Lonardo F, Torella A, Digilio MC, Dentici ML, Alfieri P, Agolini E, Novelli A, Garavelli L, Accogli A; TUDP; Striano P, Scarano G, Nigro V, Scala M, Capra V. Romano F, et al. Birth Defects Res. 2022 Aug 1;114(13):759-767. doi: 10.1002/bdr2.2058. Epub 2022 Jun 18. Birth Defects Res. 2022. PMID: 35716097 Free PMC article. Review.
BACKGROUND: Xia-Gibbs syndrome (XGS) is a rare neurodevelopmental disorder caused by pathogenic variants in the AT-hook DNA-binding motif-containing 1 gene (AHDC1), encoding a protein with a crucial role in transcription and epigenetic regulation, axonogenesis, b …
BACKGROUND: Xia-Gibbs syndrome (XGS) is a rare neurodevelopmental disorder caused by pathogenic variants in the AT-hook DNA-bi …
Prenatal presentation of multiple anomalies associated with haploinsufficiency for ARID1A.
Slavotinek A, Lefebvre M, Brehin AC, Thauvin C, Patrier S, Sparks TN, Norton M, Yu J, Huang E. Slavotinek A, et al. Eur J Med Genet. 2022 Feb;65(2):104407. doi: 10.1016/j.ejmg.2021.104407. Epub 2021 Dec 20. Eur J Med Genet. 2022. PMID: 34942405 Free PMC article.
The ARID1A gene is an infrequent cause of Coffin-Siris syndrome (CSS) and has been associated with severe to profound developmental delays and hypotonia in addition to characteristic craniofacial and digital findings. ...As haploinsufficiency for PTEN and PIKC3A can be ass …
The ARID1A gene is an infrequent cause of Coffin-Siris syndrome (CSS) and has been associated with severe to profound developmental delays a …
A rare subtelomeric deletion syndrome: Wolf Hirschhorn syndrome.
Zorlu P, Eksioglu AS, Ozkan M, Tos T, Senel S. Zorlu P, et al. Genet Couns. 2014;25(3):299-303. Genet Couns. 2014. PMID: 25365852
Wolf-Hirschhorn syndrome is caused by a deletion of the distal portion of the short arm of chromosome 4, and is characterized by psychomotor retardation, seizures, congenital malformations, and typical facial appearance including 'Greek warrior helmet' appearance of …
Wolf-Hirschhorn syndrome is caused by a deletion of the distal portion of the short arm of chromosome 4, and is characterized by psychomotor …
Clinical features in adult patient with Wolf-Hirschhorn syndrome.
Martínez-Quintana E, Rodríguez-González F. Martínez-Quintana E, et al. Morphologie. 2014 Jun;98(321):86-9. doi: 10.1016/j.morpho.2014.02.002. Epub 2014 Mar 20. Morphologie. 2014. PMID: 24656633
The Wolf-Hirschhorn syndrome (WHS) encompasses deletions at the distal part of the short arm of one chromosome 4 (4p16 region). Clinical signs frequently include a typical facial appearance, mental retardation, intrauterine and postnatal growth retardation, hypotonia …
The Wolf-Hirschhorn syndrome (WHS) encompasses deletions at the distal part of the short arm of one chromosome 4 (4p16 region). Clinical sig …
Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis.
Knaus A, Pantel JT, Pendziwiat M, Hajjir N, Zhao M, Hsieh TC, Schubach M, Gurovich Y, Fleischer N, Jäger M, Köhler S, Muhle H, Korff C, Møller RS, Bayat A, Calvas P, Chassaing N, Warren H, Skinner S, Louie R, Evers C, Bohn M, Christen HJ, van den Born M, Obersztyn E, Charzewska A, Endziniene M, Kortüm F, Brown N, Robinson PN, Schelhaas HJ, Weber Y, Helbig I, Mundlos S, Horn D, Krawitz PM. Knaus A, et al. Genome Med. 2018 Jan 9;10(1):3. doi: 10.1186/s13073-017-0510-5. Genome Med. 2018. PMID: 29310717 Free PMC article.
An elevated serum activity of alkaline phosphatase (AP), a GPI-linked enzyme, has been used to assign GPIBDs to the phenotypic series of hyperphosphatasia with mental retardation syndrome (HPMRS) and to distinguish them from another subset of GPIBDs, termed multiple congenital …
An elevated serum activity of alkaline phosphatase (AP), a GPI-linked enzyme, has been used to assign GPIBDs to the phenotypic series of hyp …
Novel truncating variant of MN1 penultimate exon identified in a Chinese patient with newly recognized MN1 C-terminal truncation syndrome: Case report and literature review.
Zhao A, Shu D, Zhang D, Yang B, Hong L, Wang A, Yao R, Wang J, Lv H, Wang J, Shen Y, Wang H, Gu Q. Zhao A, et al. Int J Dev Neurosci. 2022 Feb;82(1):96-103. doi: 10.1002/jdn.10154. Epub 2021 Nov 4. Int J Dev Neurosci. 2022. PMID: 34708882
MN1 C-terminal truncation (MCTT) syndrome is a newly recognized neurodevelopmental disorder due to heterozygous gain-of-function C-terminal truncating mutations clustering in the last or penultimate exon of MN1 gene (MIM: 156100). ...The girl presented with the char …
MN1 C-terminal truncation (MCTT) syndrome is a newly recognized neurodevelopmental disorder due to heterozygous gain-of-functi …
15 results