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Quoted phrase not found in phrase index: "Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities"
Page 1
DHX37 and 46,XY DSD: A New Ribosomopathy?
McElreavey K, Pailhoux E, Bashamboo A. McElreavey K, et al. Sex Dev. 2022;16(2-3):194-206. doi: 10.1159/000522004. Epub 2022 Jul 14. Sex Dev. 2022. PMID: 35835064 Free article. Review.
Recently, a series of recurrent missense variants in the RNA-helicase DHX37 have been reported associated with either 46,XY gonadal dysgenesis, 46,XY testicular regression syndrome (TRS), or anorchia. All affected children have non-syndromic forms of disorders/differences …
Recently, a series of recurrent missense variants in the RNA-helicase DHX37 have been reported associated with either 46,XY gonadal dysgenes …
Clinical characterization of individuals with the distal 1q21.1 microdeletion.
Edwards SD, Schulze KV, Rosenfeld JA, Westerfield LE, Gerard A, Yuan B, Grigorenko EL, Posey JE, Bi W, Liu P. Edwards SD, et al. Am J Med Genet A. 2021 May;185(5):1388-1398. doi: 10.1002/ajmg.a.62104. Epub 2021 Feb 11. Am J Med Genet A. 2021. PMID: 33576134
Statistical analysis was performed using Fisher's exact test to compare clinical features among study subjects. Common features in our cohort include microcephaly (51.2%), seizures (29.8%), developmental delay (74.5%), failure to thrive (FTT) (68.1%), dysmorphic fea …
Statistical analysis was performed using Fisher's exact test to compare clinical features among study subjects. Common features in our cohor …
Sleep disturbance in Mowat-Wilson syndrome.
Evans E, Mowat D, Wilson M, Einfeld S. Evans E, et al. Am J Med Genet A. 2016 Mar;170(3):654-60. doi: 10.1002/ajmg.a.37502. Epub 2015 Dec 21. Am J Med Genet A. 2016. PMID: 26686679
It is characterized by a distinctive facial appearance in association with intellectual disability (ID) and variable other features including agenesis of the corpus callosum, seizures, congenital heart defects, microcephaly, short stature, hypotonia, and Hirs …
It is characterized by a distinctive facial appearance in association with intellectual disability (ID) and variable other features includin …
Expanding the Clinical and Molecular Spectrum of FOXG1- and ZBTB18-Associated Neurodevelopmental Disorders.
Brea-Fernández AJ, Souto-Trinei FA, Iglesias E, Caamaño P, Rodríguez Sánchez B, Gómez Lado C, Eiris J, Fernández-Prieto M, Barros F, Brea RJ, Carracedo Á. Brea-Fernández AJ, et al. Cytogenet Genome Res. 2023;163(5-6):301-306. doi: 10.1159/000535660. Epub 2023 Dec 6. Cytogenet Genome Res. 2023. PMID: 38056433
Disruption of the components of this complex results in chromosome 1q43-q44 deletion syndrome/intellectual developmental disorder 22 or in FOXG1 syndrome. CASE PRESENTATION: This study reports on five patients with cognitive and behavioral impairment, seizures, m …
Disruption of the components of this complex results in chromosome 1q43-q44 deletion syndrome/intellectual developmental disorder 22 …
Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.
Kaiyrzhanov R, Rad A, Lin SJ, Bertoli-Avella A, Kallemeijn WW, Godwin A, Zaki MS, Huang K, Lau T, Petree C, Efthymiou S, Karimiani EG, Hempel M, Normand EA, Rudnik-Schöneborn S, Schatz UA, Baggelaar MP, Ilyas M, Sultan T, Alvi JR, Ganieva M, Fowler B, Aanicai R, Tayfun GA, Al Saman A, Alswaid A, Amiri N, Asilova N, Shotelersuk V, Yeetong P, Azam M, Babaei M, Monajemi GB, Mohammadi P, Samie S, Banu SH, Pinto Basto J, Kortüm F, Bauer M, Bauer P, Beetz C, Garshasbi M, Issa AH, Eyaid W, Ahmed H, Hashemi N, Hassanpour K, Herman I, Ibrohimov S, Abdul-Majeed BA, Imdad M, Isrofilov M, Kaiyal Q, Khan S, Kirmse B, Koster J, Lourenço CM, Mitani T, Moldovan O, Murphy D, Najafi M, Pehlivan D, Rocha ME, Salpietro V, Schmidts M, Shalata A, Mahroum M, Talbeya JK, Taylor RW, Vazquez D, Vetro A, Waterham HR, Zaman M, Schrader TA, Chung WK, Guerrini R, Lupski JR, Gleeson J, Suri M, Jamshidi Y, Bhatia KP, Vona B, Schrader M, Severino M, Guille M, Tate EW, Varshney GK, Houlden H, Maroofian R. Kaiyrzhanov R, et al. Brain. 2024 Apr 4;147(4):1436-1456. doi: 10.1093/brain/awad380. Brain. 2024. PMID: 37951597 Free PMC article.
Acbd6-deficient zebrafish and Xenopus models effectively recapitulated many clinical phenotypes reported in patients including movement disorders, progressive neuromotor impairment, seizures, microcephaly, craniofacial dysmorphism and midbrain defects accompa …
Acbd6-deficient zebrafish and Xenopus models effectively recapitulated many clinical phenotypes reported in patients including movement d …
Cdkl5 mutant zebrafish shows skeletal and neuronal alterations mimicking human CDKL5 deficiency disorder.
Varela T, Varela D, Martins G, Conceição N, Cancela ML. Varela T, et al. Sci Rep. 2022 Jun 4;12(1):9325. doi: 10.1038/s41598-022-13364-1. Sci Rep. 2022. PMID: 35665761 Free PMC article.
CDKL5 deficiency disorder (CDD) is a rare neurodevelopmental condition characterized primarily by seizures and impairment of cognitive and motor skills. ...Locomotor behavior analysis revealed that homozygous embryos swim shorter distances, indicative of impa …
CDKL5 deficiency disorder (CDD) is a rare neurodevelopmental condition characterized primarily by seizures and impairme …
Natural history of non-lethal Raine syndrome during childhood.
Mameli C, Zichichi G, Mahmood N, Elalaoui SC, Mirza A, Dharmaraj P, Burrone M, Cattaneo E, Sheth J, Gandhi A, Kochar GS, Alkuraya FS, Kabra M, Mercurio G, Zuccotti G. Mameli C, et al. Orphanet J Rare Dis. 2020 Apr 16;15(1):93. doi: 10.1186/s13023-020-01373-0. Orphanet J Rare Dis. 2020. PMID: 32299476 Free PMC article.
BACKGROUND: Raine syndrome (RS) is a rare autosomal recessive disorder caused by biallelic loss-of-function mutations of FAM20C. ...The most common neonatal comorbidity was respiratory distress secondary to choanal atresia. A variable degree of neurodevelopmental de …
BACKGROUND: Raine syndrome (RS) is a rare autosomal recessive disorder caused by biallelic loss-of-function mutations of FAM20C. ...T …
De novo missense variants in LMBRD2 are associated with developmental and motor delays, brain structure abnormalities and dysmorphic features.
Malhotra A, Ziegler A, Shu L, Perrier R, Amlie-Wolf L, Wohler E, Lygia de Macena Sobreira N, Colin E, Vanderver A, Sherbini O, Stouffs K, Scalais E, Serretti A, Barth M, Navet B, Rollier P, Xi H, Wang H, Zhang H, Perry DL, Ferrarini A, Colombo R, Pepler A, Schneider A, Tomiwa K, Okamoto N, Matsumoto N, Miyake N, Taft R, Mao X, Bonneau D. Malhotra A, et al. J Med Genet. 2021 Oct;58(10):712-716. doi: 10.1136/jmedgenet-2020-107137. Epub 2020 Aug 20. J Med Genet. 2021. PMID: 32820033
RESULTS: LMBRD2 encodes an evolutionary ancient and widely expressed transmembrane protein with no known disease association, although two paralogues are involved in developmental and metabolic disorders. Exome or genome sequencing revealed rare de novo LMBRD2 missense var …
RESULTS: LMBRD2 encodes an evolutionary ancient and widely expressed transmembrane protein with no known disease association, although two p …
Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome.
Efthymiou S, Scala M, Nagaraj V, Ochenkowska K, Komdeur FL, Liang RA, Abdel-Hamid MS, Sultan T, Barøy T, Van Ghelue M, Vona B, Maroofian R, Zafar F, Alkuraya FS, Zaki MS, Severino M, Duru KC, Tryon RC, Brauteset LV, Ansari M, Hamilton M, van Haelst MM, van Haaften G, Zara F, Houlden H, Samarut É, Nichols CG, Smeland MF, McClenaghan C. Efthymiou S, et al. Brain. 2024 May 3;147(5):1822-1836. doi: 10.1093/brain/awae010. Brain. 2024. PMID: 38217872 Free PMC article.
Affected individuals show psychomotor delay and intellectual disability of variable severity, microcephaly, corpus callosum and white matter abnormalities, seizures, spasticity, short stature, muscle fatigability and weakness. Heterozygous parents do not show …
Affected individuals show psychomotor delay and intellectual disability of variable severity, microcephaly, corpus callosum and white …
A recurrent de novo variant in NUSAP1 escapes nonsense-mediated decay and leads to microcephaly, epilepsy, and developmental delay.
Mo A, Paz-Ebstein E, Yanovsky-Dagan S, Lai A, Mor-Shaked H, Gilboa T, Yang E, Shao DD, Walsh CA, Harel T. Mo A, et al. Clin Genet. 2023 Jul;104(1):73-80. doi: 10.1111/cge.14335. Epub 2023 Apr 2. Clin Genet. 2023. PMID: 37005340 Free PMC article.
Through exome sequencing and Matchmaker Exchange, we identified two unrelated individuals with the same recurrent, de novo heterozygous variant (NM_016359.5 c.1209C > A; p.(Tyr403Ter)) in NUSAP1. Both individuals had microcephaly, severe developmental delay, brain …
Through exome sequencing and Matchmaker Exchange, we identified two unrelated individuals with the same recurrent, de novo heterozygous vari …
62 results