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Quoted phrase not found in phrase index: "Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism"
Page 1
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.
Cousin MA, Creighton BA, Breau KA, Spillmann RC, Torti E, Dontu S, Tripathi S, Ajit D, Edwards RJ, Afriyie S, Bay JC, Harper KM, Beltran AA, Munoz LJ, Falcon Rodriguez L, Stankewich MC, Person RE, Si Y, Normand EA, Blevins A, May AS, Bier L, Aggarwal V, Mancini GMS, van Slegtenhorst MA, Cremer K, Becker J, Engels H, Aretz S, MacKenzie JJ, Brilstra E, van Gassen KLI, van Jaarsveld RH, Oegema R, Parsons GM, Mark P, Helbig I, McKeown SE, Stratton R, Cogne B, Isidor B, Cacheiro P, Smedley D, Firth HV, Bierhals T, Kloth K, Weiss D, Fairley C, Shieh JT, Kritzer A, Jayakar P, Kurtz-Nelson E, Bernier RA, Wang T, Eichler EE, van de Laar IMBH, McConkie-Rosell A, McDonald MT, Kemppainen J, Lanpher BC, Schultz-Rogers LE, Gunderson LB, Pichurin PN, Yoon G, Zech M, Jech R, Winkelmann J; Undiagnosed Diseases Network; Genomics England Research Consortium; Beltran AS, Zimmermann MT, Temple B, Moy SS, Klee EW, Tan QK, Lorenzo DN. Cousin MA, et al. Nat Genet. 2021 Jul;53(7):1006-1021. doi: 10.1038/s41588-021-00886-z. Epub 2021 Jul 1. Nat Genet. 2021. PMID: 34211179 Free PMC article.
Here we identify heterozygous SPTBN1 variants in 29 individuals with developmental, language and motor delays; mild to severe intellectual disability; autistic features; seizures; behavioral and movement abnormalities; hypotonia; and variable dysmorphic …
Here we identify heterozygous SPTBN1 variants in 29 individuals with developmental, language and motor delays; mild to severe intelle …
Angelman syndrome revisited.
Paprocka J, Jamroz E, Szwed-Białozyt B, Jezela-Stanek A, Kopyta I, Marszał E. Paprocka J, et al. Neurologist. 2007 Sep;13(5):305-12. doi: 10.1097/01.nrl.0000253067.32759.aa. Neurologist. 2007. PMID: 17848870
OBJECTIVES: Angelman syndrome (AS) is characterized by severe mental retardation, epilepsy, absent speech, dysmorphic facial features, and a characteristic behavioral phenotype. ...All patients but 1 experienced predominantly polymorphic seizures. In 4 cases, …
OBJECTIVES: Angelman syndrome (AS) is characterized by severe mental retardation, epilepsy, absent speech, dysmorphic facial f …
Clinical delineation of the PACS1-related syndrome--Report on 19 patients.
Schuurs-Hoeijmakers JH, Landsverk ML, Foulds N, Kukolich MK, Gavrilova RH, Greville-Heygate S, Hanson-Kahn A, Bernstein JA, Glass J, Chitayat D, Burrow TA, Husami A, Collins K, Wusik K, van der Aa N, Kooy F, Brown KT, Gadzicki D, Kini U, Alvarez S, Fernández-Jaén A, McGehee F, Selby K, Tarailo-Graovac M, Van Allen M, van Karnebeek CD, Stavropoulos DJ, Marshall CR, Merico D, Gregor A, Zweier C, Hopkin RJ, Chu YW, Chung BH, de Vries BB, Devriendt K, Hurles ME, Brunner HG; DDD study. Schuurs-Hoeijmakers JH, et al. Am J Med Genet A. 2016 Mar;170(3):670-5. doi: 10.1002/ajmg.a.37476. Epub 2016 Feb 3. Am J Med Genet A. 2016. PMID: 26842493
Intellectual disability, ranging from mild to moderate, was present in all. Hypotonia is common in infancy (8/19). Seizures are frequent (12/19) and respond well to anticonvulsive medication. ...Feeding dysfunction is presenting in infancy with failure to thrive (5/19), ga …
Intellectual disability, ranging from mild to moderate, was present in all. Hypotonia is common in infancy (8/19). Seizures are frequ …
Trisomy 20p/monosomy 18p associated with congenital bilateral perisylvian syndrome.
Bonardi CM, Bayat A, Madsen CG, Hammer TB, Reale C, Gardella E, Marjanovic D, Beniczky S, Møller RS, Rubboli G. Bonardi CM, et al. Epileptic Disord. 2022 Jun 1;24(3):577-582. doi: 10.1684/epd.2022.1423. Epileptic Disord. 2022. PMID: 35770758 English.
Clinical examination showed moderate/severe intellectual disability, dysmorphic features, oro-motor dysfunction, short stature, abnormal hands and feet, bradykinesia and abnormal posture. ...Additional imaging features revealed corpus callosum and cere …
Clinical examination showed moderate/severe intellectual disability, dysmorphic features, oro-motor dysfunction, short stature …
Myopathic changes associated with psychomotor delay and seizures caused by a novel homozygous mutation in TBCK.
Saredi S, Cauley ES, Ruggieri A, Spivey TM, Ardissone A, Mora M, Moroni I, Manzini MC. Saredi S, et al. Muscle Nerve. 2020 Aug;62(2):266-271. doi: 10.1002/mus.26907. Epub 2020 May 27. Muscle Nerve. 2020. PMID: 32363625 Free PMC article.
BACKGROUND: Biallelic mutations in TBC1-domain containing kinase (TBCK) lead to hypotonia, global developmental delay with severe cognitive and motor deficits, and variable presentation of dysmorphic facial features and brain malformations. ...
BACKGROUND: Biallelic mutations in TBC1-domain containing kinase (TBCK) lead to hypotonia, global developmental delay with severe cognitive …
TWO CASES WITH DIFFERENT EPILEPSY TYPE AND DYSMORPHIC FEATURES ASSOCIATED WITH 17q21.31 MICRODELETION SYNDROME.
Uctepe E, Aktas D, Alikasifoglu M, Gunduz E, Sonmez FM. Uctepe E, et al. Genet Couns. 2016;27(3):357-365. Genet Couns. 2016. PMID: 30204964
Here we report on two Turkish patients with different seizure types and additional dysmorphic features associated with 17q21.31 microdeletion syndrome. A 4 year-old female patient with generalized tonic-clonic seizures, mild mental retardation, dysmorphic …
Here we report on two Turkish patients with different seizure types and additional dysmorphic features associated with 17q21.3 …
Expanding the neurological and behavioral phenotype of White-Sutton syndrome: a case report.
Donnarumma B, Riccio MP, Terrone G, Palma M, Strisciuglio P, Scala I. Donnarumma B, et al. Ital J Pediatr. 2021 Jul 2;47(1):148. doi: 10.1186/s13052-021-01101-9. Ital J Pediatr. 2021. PMID: 34215294 Free PMC article.
Approximately 70 patients have been reported to date. Intellectual disability, hypotonia, behavioral abnormalities, autism, and typical facial dysmorphisms are recognized as WHSUS features; however, still few patients receive a comprehensive psychometric, beh …
Approximately 70 patients have been reported to date. Intellectual disability, hypotonia, behavioral abnormalities, autism, and typic …
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' appear …
Wolf-Hirschhorn syndrome is caused by a deletion of the distal portion of the short arm of chromosome 4, and is characterized by psychomotor …
Chromosome 16p13.11 Microdeletion Syndrome in a Newborn: A Case Study.
Smith AE, Jnah A, Newberry D. Smith AE, et al. Neonatal Netw. 2018 Sep;37(5):303-309. doi: 10.1891/0730-0832.37.5.303. Neonatal Netw. 2018. PMID: 30567812
Clinical manifestations and associated defects known to present in the neonatal period include motor delay, facial dysmorphisms, microcephaly, gastroesophageal reflux disease (GERD), and congenital heart defects. ...Life span implications of chromosome …
Clinical manifestations and associated defects known to present in the neonatal period include motor delay, facial dysmorph …
A de novo variant in the X-linked gene CNKSR2 is associated with seizures and mild intellectual disability in a female patient.
Polla DL, Saunders HR, de Vries BBA, van Bokhoven H, de Brouwer APM. Polla DL, et al. Mol Genet Genomic Med. 2019 Oct;7(10):e00861. doi: 10.1002/mgg3.861. Epub 2019 Aug 15. Mol Genet Genomic Med. 2019. PMID: 31414730 Free PMC article.
Only for one C-terminal nonsense variant, two carrier females were mildly affected by seizures without or with mild motor and language delay. METHODS: Exome sequencing was performed in one female child of a Dutch family, presenting seizures, mild ID, facia …
Only for one C-terminal nonsense variant, two carrier females were mildly affected by seizures without or with mild motor and …
16 results