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Quoted phrase not found in phrase index: "Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies"
Page 1
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.
Saffari A, Lau T, Tajsharghi H, Karimiani EG, Kariminejad A, Efthymiou S, Zifarelli G, Sultan T, Toosi MB, Sedighzadeh S, Siu VM, Ortigoza-Escobar JD, AlShamsi AM, Ibrahim S, Al-Sannaa NA, Al-Hertani W, Sandra W, Tarnopolsky M, Alavi S, Li C, Day-Salvatore DL, Martínez-González MJ, Levandoski KM, Bedoukian E, Madan-Khetarpal S, Idleburg MJ, Menezes MJ, Siddharth A, Platzer K, Oppermann H, Smitka M, Collins F, Lek M, Shahrooei M, Ghavideldarestani M, Herman I, Rendu J, Faure J, Baker J, Bhambhani V, Calderwood L, Akhondian J, Imannezhad S, Mirzadeh HS, Hashemi N, Doosti M, Safi M, Ahangari N, Torbati PN, Abedini S, Salpietro V, Gulec EY, Eshaghian S, Ghazavi M, Pascher MT, Vogel M, Abicht A, Moutton S, Bruel AL, Rieubland C, Gallati S, Strom TM, Lochmüller H, Mohammadi MH, Alvi JR, Zackai EH, Keena BA, Skraban CM, Berger SI, Andrew EH, Rahimian E, Morrow MM, Wentzensen IM, Millan F, Henderson LB, Dafsari HS, Jungbluth H, Gomez-Ospina N, McRae A, Peter M, Veltra D, Marinakis NM, Sofocleous C, Ashrafzadeh F, Pehlivan D, Lemke JR, Melki J, Benezit A, Bauer P, Weis D, Lupski JR, Senderek J, Christodoulou J, Chung WK, Goodchild R, Offiah AC, Moreno-De-Luca A, Suri M, Ebrahimi-Fakhari D,… See abstract for full author list ➔ Saffari A, et al. Brain. 2023 Aug 1;146(8):3273-3288. doi: 10.1093/brain/awad039. Brain. 2023. PMID: 36757831 Free PMC article.
Median age at last follow-up was 3 years (0-24 years). Most individuals presented with severe congenital flexion contractures (95%) and variable developmental delay (79%). ...Analysis of disease-associated manifestations delineated a phenotypic spectrum rangi …
Median age at last follow-up was 3 years (0-24 years). Most individuals presented with severe congenital flexion contractures (95%) a …
Deletion 22q13.3 syndrome.
Phelan MC. Phelan MC. Orphanet J Rare Dis. 2008 May 27;3:14. doi: 10.1186/1750-1172-3-14. Orphanet J Rare Dis. 2008. PMID: 18505557 Free PMC article.
The deletion 22q13.3 syndrome (deletion 22q13 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed …
The deletion 22q13.3 syndrome (deletion 22q13 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by …
Esophageal atresia in patients with anorectal malformations.
Fernandez E, Bischoff A, Dickie BH, Frischer J, Hall J, Peña A. Fernandez E, et al. Pediatr Surg Int. 2014 Aug;30(8):767-71. doi: 10.1007/s00383-014-3531-9. Epub 2014 Jul 4. Pediatr Surg Int. 2014. PMID: 24993283 Review.
EA patients had a significantly higher incidence of tethered cord (32.3 vs. 17.6 %), cardiac anomalies (32.3 vs. 22.5 %) including VSD (12.5 vs. 4.5 %), hydronephrosis (36.5 vs. 15.4 %), absent kidney (26.3 vs. 10.5 %), duodenal atresia (7.7 vs. 1.7 %), vertebral anomalies …
EA patients had a significantly higher incidence of tethered cord (32.3 vs. 17.6 %), cardiac anomalies (32.3 vs. 22.5 %) including VSD (12.5 …
Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy.
Marafi D, Fatih JM, Kaiyrzhanov R, Ferla MP, Gijavanekar C, Al-Maraghi A, Liu N, Sites E, Alsaif HS, Al-Owain M, Zakkariah M, El-Anany E, Guliyeva U, Guliyeva S, Gaba C, Haseeb A, Alhashem AM, Danish E, Karageorgou V, Beetz C, Subhi AA, Mullegama SV, Torti E, Sebastin M, Breilyn MS, Duberstein S, Abdel-Hamid MS, Mitani T, Du H, Rosenfeld JA, Jhangiani SN, Coban Akdemir Z, Gibbs RA, Taylor JC, Fakhro KA, Hunter JV, Pehlivan D, Zaki MS, Gleeson JG, Maroofian R, Houlden H, Posey JE, Sutton VR, Alkuraya FS, Elsea SH, Lupski JR. Marafi D, et al. Brain. 2022 Apr 29;145(3):909-924. doi: 10.1093/brain/awab369. Brain. 2022. PMID: 34605855 Free PMC article.
The gene encodes SNAT3, a sodium-coupled neutral amino acid transporter and a principal transporter of the amino acids asparagine, histidine, and glutamine, the latter being the precursor for the neurotransmitters GABA and glutamate. Additional subjects with a similar developm …
The gene encodes SNAT3, a sodium-coupled neutral amino acid transporter and a principal transporter of the amino acids asparagine, histidine …
A homozygous variant of WDR45B results in global developmental delay: Additional case and literature review.
Zhang J, Lu Y, Tian X, Men X, Zhang Y, Yan H, Yang F, Yang Z, Wang X. Zhang J, et al. Mol Genet Genomic Med. 2022 Oct;10(10):e2036. doi: 10.1002/mgg3.2036. Epub 2022 Aug 13. Mol Genet Genomic Med. 2022. PMID: 35962600 Free PMC article. Review.
BACKGROUND: Global developmental delay (GDD) has a heterogeneous clinical profile among patients, accounting for approximately 1%-3% of cases in children. ...The variant was predicted to be damaging for proteins and classified as VUS according to the A …
BACKGROUND: Global developmental delay (GDD) has a heterogeneous clinical profile among patients, accounting for approx …
Krabbe disease--clinical profile.
Tullu MS, Muranjan MN, Kondurkar PP, Bharucha BA. Tullu MS, et al. Indian Pediatr. 2000 Sep;37(9):939-46. Indian Pediatr. 2000. PMID: 10992329
RESULTS: Nine children (age ranging from 2 1/2 months to 8 years) were studied, of which 5 had the classical infantile disease, 3 had late infantile form and one was diagnosed as juvenile KD. GALC levels in peripheral blood leukocytes were low or absent in all. Most of the …
RESULTS: Nine children (age ranging from 2 1/2 months to 8 years) were studied, of which 5 had the classical infantile disease, 3 had late i …
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. We present three fetuses and a male neonate with …
The ARID1A gene is an infrequent cause of Coffin-Siris syndrome (CSS) and has been associated with severe to profound developmental …
A novel de novo TMEM63A variant in a patient with severe hypomyelination and global developmental delay.
Fukumura S, Hiraide T, Yamamoto A, Tsuchida K, Aoto K, Nakashima M, Saitsu H. Fukumura S, et al. Brain Dev. 2022 Feb;44(2):178-183. doi: 10.1016/j.braindev.2021.09.006. Epub 2021 Sep 28. Brain Dev. 2022. PMID: 34598833
To date, four TMEM63A variants have been reported in five patients. These patients exhibited favorable clinical course, developmental progress, and completion of myelination. CASE REPORT: The patient was a 5-year-old girl with severe global developmental …
To date, four TMEM63A variants have been reported in five patients. These patients exhibited favorable clinical course, developmen …
De novo TRPM3 missense variant associated with neurodevelopmental delay and manifestations of cerebral palsy.
Sundaramurthi JC, Bagley AM, Blau H, Carmody L, Crandall A, Danis D, Gargano MA, Gustafson AG, Raney EM, Shingle M, Davids JR, Robinson PN. Sundaramurthi JC, et al. Cold Spring Harb Mol Case Stud. 2024 Jan 10;9(4):a006293. doi: 10.1101/mcs.a006293. Print 2023 Dec. Cold Spring Harb Mol Case Stud. 2024. PMID: 37684057 Free PMC article.
We identified a de novo heterozygous transient receptor potential cation channel subfamily M (melastatin) member 3 (TRPM3) missense variant, p.(Asn1126Asp), in a patient with developmental delay and manifestations of cerebral palsy (CP) using phenotype-driven priori …
We identified a de novo heterozygous transient receptor potential cation channel subfamily M (melastatin) member 3 (TRPM3) missense variant, …
Whole Exome Sequencing Reveals a Novel AUTS2 In-Frame Deletion in a Boy with Global Developmental Delay, Absent Speech, Dysmorphic Features, and Cerebral Anomalies.
Palumbo P, Di Muro E, Accadia M, Benvenuto M, Di Giacomo MC, Castellana S, Mazza T, Castori M, Palumbo O, Carella M. Palumbo P, et al. Genes (Basel). 2021 Feb 5;12(2):229. doi: 10.3390/genes12020229. Genes (Basel). 2021. PMID: 33562463 Free PMC article.
Among them, AUTS2 (OMIM # 607270) encodes a protein involved in neural migration and neuritogenesis, and causes NNDs with different molecular mechanisms including copy number variations, single or multiple exonic deletion and single nucleotide variants. We describes a 9-year-old …
Among them, AUTS2 (OMIM # 607270) encodes a protein involved in neural migration and neuritogenesis, and causes NNDs with different molecula …
36 results