| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| D R Sun, S T Wang, J S Li, R Yu, M Ho. [A case of neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination caused by a variant in NACC1 gene]. Zhonghua er ke za zhi = Chinese journal of pediatrics. vol 62. issue 6. 2024-05-19. PMID:38763882. |
[a case of neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination caused by a variant in nacc1 gene]. |
2024-05-19 |
2024-05-27 |
Not clear |
| Kelly Schoch, Allyn McConkie-Rosell, Nicole Walley, Vikas Bhambhani, Timothy Feyma, Carolyn E Pizoli, Edward C Smith, Queenie K-G Tan, Vandana Shash. Parental perspectives of episodic irritability in an ultra-rare genetic disorder associated with NACC1. Orphanet journal of rare diseases. vol 18. issue 1. 2023-09-04. PMID:37667351. |
a recurrent de novo variant (c.892c>t) in nacc1 causes a neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination (necfm). |
2023-09-04 |
2023-09-07 |
Not clear |
| Zhongwen Huang, Wei Lu, Ping Zhang, Yulan Lu, Liping Chen, Wenqing Kang, Lin Yang, Gang Li, Jitao Zhu, Bingbing Wu, Wenhao Zhou, Huijun Wan. Early onset critically ill infants with Schaaf-Yang syndrome: a retrospective study from the China neonatal genomes project and literature review. Annals of translational medicine. vol 11. issue 9. 2023-07-05. PMID:37404980. |
schaaf-yang syndrome (sys) is a recently identified rare neurodevelopmental disorder characterized by neonatal hypotonia, feeding difficulty, joint contractures, autism spectrum disorder and development delay/intellectual disability. |
2023-07-05 |
2023-08-14 |
Not clear |
| Alessandra Mari, Marco Ugo Andrea Sartorio, Irene Degrassi, Enza D'Auria, Laura Fiori, Dario Dilillo, Marta Agostinelli, Erica Pendezza, Alessandra Bosetti, Luciano Maestri, Gloria Pelizzo, Gian Vincenzo Zuccotti, Elvira Verduc. Late-Onset Pyloric Stenosis and Intussusception With Final Diagnosis of Food Proteins' Hypersensitivity in Schaaf-Yang Syndrome: A Case Report. JPGN reports. vol 3. issue 2. 2023-05-11. PMID:37168918. |
schaaf-yang syndrome (sys) is a rare neurodevelopmental disorder whose clinical spectrum includes neurodevelopment delay, dysmorphic features, and gastrointestinal symptoms such as feeding difficulties, gastroesophageal reflux, and chronic constipation. |
2023-05-11 |
2023-08-14 |
Not clear |
| Cansu Memiç İnan, Ayşe Özfer Özçeli. Nutritional Status and Feeding Problems in Pediatric Specific Learning Disability. Clinical pediatrics. 2023-01-07. PMID:36609156. |
this cross-sectional study aims to determine the feeding problems and nutritional status of children diagnosed with specific learning disability (sld), which is one of the neurodevelopmental disorders. |
2023-01-07 |
2023-08-14 |
Not clear |
| Parith Wongkittichote, Tae-Ik Choi, Oc-Hee Kim, Kacie Riley, Dwight Koeberl, Vinodh Narayanan, Keri Ramsey, Chris Balak, Charles Schwartz, Anna Maria Cueto-Gonzalez, Francina Munell Casadesus, Cheol-Hee Kim, Marwan S Shinaw. Expanding allelic and phenotypic spectrum of ZC4H2-related disorder: a novel hypomorphic variant and high prevalence of tethered cord. Clinical genetics. 2022-10-17. PMID:36250278. |
pathogenic variants in zc4h2 have been associated with wieacker-wolff syndrome (mim# 314580), an x-linked neurodevelopmental disorder characterized by arthrogryposis, development delay, hypotonia, feeding difficulties, poor growth, skeletal abnormalities, and dysmorphic features. |
2022-10-17 |
2023-08-14 |
human |
| Skyler Younger, Sydney Boutros, Francesca Cargnin, Shin Jeon, Jae W Lee, Soo-Kyung Lee, Jacob Rabe. Behavioral Phenotypes of Foxg1 Heterozygous Mice. Frontiers in pharmacology. vol 13. 2022-06-27. PMID:35754477. |
foxg1 syndrome (fs, aka a congenital variant of rett syndrome) is a recently defined rare and devastating neurodevelopmental disorder characterized by various symptoms, including severe intellectual disability, autistic features, involuntary, and continuous jerky movements, feeding problems, sleep disturbances, seizures, irritability, and excessive crying. |
2022-06-27 |
2023-08-14 |
mouse |
| Roberto Paparella, Anna Maria Caroleo, Emanuele Agolini, Giovanni Chillemi, Evelina Miele, Lucia Pedace, Martina Rinelli, Simone Pizzi, Luigi Boccuto, Giovanna Stefania Colafati, Mariachiara Lodi, Antonella Cacchione, Andrea Carai, Maria Cristina Digilio, Paolo Tomà, Marco Tartaglia, Angela Mastronuzz. Posterior fossa ependymoma in neurodevelopmental syndrome caused by a de novo germline pathogenic Polr2a variant. American journal of medical genetics. Part A. 2022-06-11. PMID:35689525. |
de novo variants in polr2a, the gene encoding the largest subunit of rna polymerase ii, cause a neurodevelopmental disorder with a wide range of clinical manifestations, characterized by severe infantile-onset hypotonia, developmental delay, feeding difficulties, palatal anomalies, and facial dysmorphisms. |
2022-06-11 |
2023-08-14 |
Not clear |
| Vera K Wild. Neonatal Jaundice and Autism: Precautionary Principle Invocation Overdue. Cureus. vol 14. issue 2. 2022-03-01. PMID:35228983. |
feeding neonates adequately may play an important role in preventing autism and other neurodevelopmental disorders including attention deficit hyperactivity disorder, cerebral palsy, epilepsy, hearing impairment, learning disorders, and mood disorders. |
2022-03-01 |
2023-08-13 |
Not clear |
| Ke Wu, Yan Con. Case report : a novel ASXL3 gene variant in a Sudanese boy. BMC pediatrics. vol 21. issue 1. 2021-12-10. PMID:34886823. |
bainbridge-ropers syndrome (brps) [omim#615485] is a neurodevelopmental disorder, characterized by delayed psychomotor development with generalized hypotonia, moderate to severe intellectual disability, poor or absent speech, feeding difficulties, growth failure, dysmorphic craniofacial features and minor skeletal features. |
2021-12-10 |
2023-08-13 |
Not clear |
| Lisa Pavinato, Slavica Trajkova, Enrico Grosso, Elisa Giorgio, Alessandro Bruselles, Francesca Clementina Radio, Tommaso Pippucci, Paola Dimartino, Marco Tartaglia, Aleksandar Petlichkovski, Silvia De Rubeis, Joseph Buxbaum, Giovanni Battista Ferrero, Roberto Keller, Alfredo Brusc. Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review. American journal of medical genetics. Part A. vol 185. issue 6. 2021-09-01. PMID:33675273. |
this condition is an ultra-rare autosomal dominant neurodevelopmental disorder characterized by a broad range of clinical signs, including intellectual disability (id), developmental delay (dd), seizures, abnormal facial features, feeding difficulties, and minor skeletal anomalies. |
2021-09-01 |
2023-08-13 |
Not clear |
| Li Tan, Ying Li, Fan Liu, Yufeng Huang, Sukun Luo, Peiwei Zhao, Weiyue Gu, Jun Lin, Aifen Zhou, Xuelian H. A 9-month-old Chinese patient with Gabriele-de Vries syndrome due to novel germline mutation in the YY1 gene. Molecular genetics & genomic medicine. vol 9. issue 2. 2021-08-04. PMID:33369188. |
gabriele-de vries syndrome (gadevs), also known as yy1 haploinsufficiency syndrome, is a very rare autosomal dominant neurodevelopmental disorder (ndd) due to yy1 mutation characterized by mild-to-profound developmental delay (dd)/intellectual disability (id), a wide spectrum of functional and morphologic abnormalities, and intrauterine growth restriction or low birth weight and feeding difficulties are common in the patients. |
2021-08-04 |
2023-08-13 |
Not clear |
| Thomas M Maynard, Irene E Zohn, Sally A Moody, Anthony-S LaManti. Suckling, Feeding, and Swallowing: Behaviors, Circuits, and Targets for Neurodevelopmental Pathology. Annual review of neuroscience. vol 43. 2021-08-02. PMID:32101484. |
disrupted suckling, feeding, and swallowing from birth onward-perinatal dysphagia-is often associated with several neurodevelopmental disorders that subsequently alter complex behaviors. |
2021-08-02 |
2023-08-13 |
Not clear |
| Sigrun Thorsteinsdottir, Annemarie Olsen, Anna S Olafsdotti. Fussy Eating among Children and Their Parents: Associations in Parent-Child Dyads, in a Sample of Children with and without Neurodevelopmental Disorders. Nutrients. vol 13. issue 7. 2021-07-29. PMID:34202394. |
however, the associations between children's and parents' eating behaviors are complex and may be convoluted for various reasons, such as parenting feeding styles, stressful mealtimes, and children's neurodevelopmental disorders (nd), such as autism spectrum disorder (asd) and attention-deficit/hyperactivity disorder (adhd). |
2021-07-29 |
2023-08-13 |
Not clear |
| Geeske M van Woerden, Melanie Bos, Charlotte de Konink, Ben Distel, Rossella Avagliano Trezza, Natasha E Shur, Kristin Barañano, Sonal Mahida, Anna Chassevent, Allison Schreiber, Angelika L Erwin, Karen W Gripp, Fatima Rehman, Saskia Brulleman, Róisín McCormack, Gwynna de Geus, Louisa Kalsner, Arthur Sorlin, Ange-Line Bruel, David A Koolen, Melissa K Gabriel, Mari Rossi, David R Fitzpatrick, Andrew O M Wilkie, Eduardo Calpena, David Johnson, Alice Brooks, Marjon van Slegtenhorst, Julie Fleischer, Daniel Groepper, Kristin Lindstrom, A Micheil Innes, Allison Goodwin, Jennifer Humberson, Amanda Noyes, Katherine G Langley, Aida Telegrafi, Amy Blevins, Jessica Hoffman, Maria J Guillen Sacoto, Jane Juusola, Kristin G Monaghan, Sumit Punj, Marleen Simon, Rolph Pfundt, Ype Elgersma, Tjitske Kleefstr. TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development. Human mutation. vol 42. issue 4. 2021-07-07. PMID:33565190. |
taken together, our data indicate that taok1 activity needs to be properly controlled for normal neuronal function and that taok1 dysregulation leads to a neurodevelopmental disorder mainly comprising similar facial features, developmental delay/intellectual disability and/or variable learning or behavioral problems, muscular hypotonia, infant feeding difficulties, and growth problems. |
2021-07-07 |
2023-08-13 |
mouse |
| Kris Pui-Tak Yu, Ho-Ming Luk, Jasmine L F Fung, Brian Hon-Yin Chung, Ivan Fai-Man L. Further expanding the clinical phenotype in Bainbridge-Ropers syndrome and dissecting genotype-phenotype correlation in the ASXL3 mutational cluster regions. European journal of medical genetics. vol 64. issue 1. 2021-06-08. PMID:33242595. |
bainbridge-ropers syndrome (brps) [omim#615485] is a neurodevelopmental disorder, characterized by delayed psychomotor development with generalized hypotonia, intellectual disability with poor or absent speech, feeding difficulties, growth failure, specific craniofacial and minor skeletal features. |
2021-06-08 |
2023-08-13 |
Not clear |
| Michael D Fountain, Christian P Schaa. Prader-Willi Syndrome and Schaaf-Yang Syndrome: Neurodevelopmental Diseases Intersecting at the Diseases (Basel, Switzerland). vol 4. issue 1. 2020-10-01. PMID:28933382. |
prader-willi syndrome and schaaf-yang syndrome: neurodevelopmental diseases intersecting at the prader-willi syndrome (pws) is a neurodevelopmental disorder characterized by neonatal hypotonia, developmental delay/intellectual disability, and characteristic feeding behaviors with failure to thrive during infancy; followed by hyperphagia and excessive weight gain later in childhood. |
2020-10-01 |
2023-08-13 |
Not clear |
| Francesca Mattioli, Gaelle Hayot, Nathalie Drouot, Bertrand Isidor, Jérémie Courraud, Maria-Victoria Hinckelmann, Frederic Tran Mau-Them, Chantal Sellier, Alica Goldman, Aida Telegrafi, Alicia Boughton, Candace Gamble, Sebastien Moutton, Angélique Quartier, Nolwenn Jean, Paul Van Ness, Sarah Grotto, Sophie Nambot, Ganka Douglas, Yue Cindy Si, Jamel Chelly, Zohra Shad, Elisabeth Kaplan, Richard Dineen, Christelle Golzio, Nicolas Charlet-Berguerand, Jean-Louis Mandel, Amélie Pito. De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder. American journal of human genetics. vol 106. issue 4. 2020-05-11. PMID:32197073. |
we report here six individuals with de novo frameshift variants in nova2 affected with a severe neurodevelopmental disorder characterized by intellectual disability (id), motor and speech delay, autistic features, hypotonia, feeding difficulties, spasticity or ataxic gait, and abnormal brain mri. |
2020-05-11 |
2023-08-13 |
human |
| Yanling Dong, Shu Liu, Junnan Li, Jian Li, Qian Chen, Jianyun Luo, Chunlei Li, Huifan Li, Hongbo Qi, Rong L. Possibility of early diagnosis in a fetus affected by Prader‑Willi syndrome with maternal hetero‑UPD15: A lesson to be learned. Molecular medicine reports. vol 20. issue 1. 2019-12-30. PMID:31115529. |
prader‑willi syndrome (pws), a complicated neurodevelopmental disorder arising from errors in genomic imprinting, is characterized by evident hypotonia along with feeding difficulties and the absence of crying in early infancy. |
2019-12-30 |
2023-08-13 |
Not clear |
| Tayfun Ates, Merve Oncul, Pelin Dilsiz, Iskalen Cansu Topcu, Cihan Civan Civas, Muhammed Ikbal Alp, Iltan Aklan, Edanur Ates Oz, Yavuz Yavuz, Bayram Yilmaz, Nilufer Sayar Atasoy, Deniz Ataso. Inactivation of Magel2 suppresses oxytocin neurons through synaptic excitation-inhibition imbalance. Neurobiology of disease. vol 121. 2019-11-21. PMID:30240706. |
prader-willi and the related schaaf-yang syndromes (pws/sys) are rare neurodevelopmental disorders characterized by overlapping phenotypes of high incidence of autism spectrum disorders (asd) and neonatal feeding difficulties. |
2019-11-21 |
2023-08-13 |
Not clear |