| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Mahpara Hasan, Gayatra Mainali, Ermal Aliu, Sita Paude. A Case of Autosomal Recessive Intellectual Developmental Disorder Type 5 Presenting with Epilepsy. Case reports in genetics. vol 2022. 2022-11-24. PMID:36420349. |
the current literature shows that mrt5 typically manifests with intellectual disability, facial dysmorphism, juvenile cataracts, chronic nephritis, hearing impairment, seizures, cerebellar atrophy, and microcephaly (pingree et al. |
2022-11-24 |
2023-08-14 |
Not clear |
| Runfeng Zhang, Peng Jia, Yanyi Yao, Feng Zh. Case Report: Identification of a novel Frontiers in genetics. vol 13. 2022-09-12. PMID:36092876. |
case report: identification of a novel mental retardation and microcephaly with pontine and cerebellar hypoplasia (micpch) is a rare genetic disorder that results in varying levels of pontocerebellar hypoplasia, microcephaly, and severe intellectual disabilities. |
2022-09-12 |
2023-08-14 |
Not clear |
| Jeong Ho Ahn, Seung Hwan Oh, Ji Kyoung Park, Kwang Hoon Kim, Jeong Eun Lee, Woo Yeong Chung, Keun Soo Lee, Go Hun Seo, Bo Lyun Le. A Novel Frameshift Annals of clinical and laboratory science. vol 52. issue 3. 2022-07-01. PMID:35777792. |
intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasia (micpch; mim#300749) is a disorder caused by pathogenic loss-of-function variants in |
2022-07-01 |
2023-08-14 |
Not clear |
| Mutaz Amin, Cedric Vignal, Ahlam A A Hamed, Inaam N Mohammed, Maha A Elseed, Rayan Abubaker, Yousuf Bakhit, Arwa Babai, Eman Elbadi, Esraa Eltaraifee, Doua Mustafa, Ashraf Yahia, Melka Osman, Mahmoud Koko, Mohamed Mustafa, Mohamed Alsiddig, Sahwah Haroun, Azza Elshafea, Severine Drunat, Liena E O Elsayed, Ammar E Ahmed, Odile Boespflug-Tanguy, Imen Dorbo. Case Report: A New Family With Pontocerebellar Hypoplasia 10 From Sudan. Frontiers in genetics. vol 13. 2022-06-20. PMID:35719383. |
pontocerebellar hypoplasia type 10 (pch10) is a very rare autosomal recessive neurodegenerative disease characterized by intellectual disability, microcephaly, severe developmental delay, pyramidal signs, mild cerebellar atrophy, and white matter changes in the brain, as shown by magnetic resonance imaging (mri). |
2022-06-20 |
2023-08-14 |
Not clear |
| Holly Dubbs, Xilma Ortiz-Gonzalez, Eric D Mars. Pathogenic variants in CASK: Expanding the genotype-phenotype correlations. American journal of medical genetics. Part A. 2022-06-07. PMID:35670295. |
pathogenic variants in cask, an x-linked gene that plays a role in brain development and synaptic function, are the cause of both microcephaly with pontine and cerebellar hypoplasia (micpch), and x-linked intellectual disability (xlid) with or without nystagmus. |
2022-06-07 |
2023-08-14 |
Not clear |
| Sixian Wu, Chuan Jiang, Jiaman Li, Guohui Zhang, Ying Shen, Jing Wan. A novel missense variant in the CASK gene causes intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia. BMC medical genomics. vol 15. issue 1. 2022-06-06. PMID:35668446. |
a novel missense variant in the cask gene causes intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia. |
2022-06-06 |
2023-08-14 |
Not clear |
| Sixian Wu, Chuan Jiang, Jiaman Li, Guohui Zhang, Ying Shen, Jing Wan. A novel missense variant in the CASK gene causes intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia. BMC medical genomics. vol 15. issue 1. 2022-06-06. PMID:35668446. |
intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasia (micpch) is an x-linked disorder that affects females and is characterized by severely impaired intellectual development and variable degrees of pontocerebellar hypoplasia. |
2022-06-06 |
2023-08-14 |
Not clear |
| Ying Zhang, Yanyan Nie, Yu Mu, Jie Zheng, Xiaowei Xu, Fang Zhang, Jianbo Shu, Yang Li. A de novo variant in CASK gene causing intellectual disability and brain hypoplasia: a case report and literature review. Italian journal of pediatrics. vol 48. issue 1. 2022-05-13. PMID:35550617. |
the main clinical manifestations are microcephaly with pontine and cerebellar hypoplasia, x-linked mental disorders with or without nystagmus and fg syndrome. |
2022-05-13 |
2023-08-13 |
Not clear |
| Nur Canpolat, Dingxiao Liu, Emine Atayar, Seha Saygili, Nazli Sila Kara, Trudi A Westfall, Qiong Ding, Bartley J Brown, Terry A Braun, Diane Slusarski, Kader K Oguz, Yasemin Ozluk, Beyhan Tuysuz, Tugba Tastemel Ozturk, Lale Sever, Osman Ugur Sezerman, Rezan Topaloglu, Salim Caliskan, Massimo Attanasio, Fatih Ozalti. A splice site mutation in the TSEN2 causes a new syndrome with craniofacial and central nervous system malformations, and atypical hemolytic uremic syndrome. Clinical genetics. 2021-12-29. PMID:34964109. |
recessive mutations in the genes encoding the four subunits of the trna splicing endonuclease complex (tsen54, tsen34, tsen15, and tsen2) cause various forms of pontocerebellar hypoplasia, a disorder characterized by hypoplasia of the cerebellum and the pons, microcephaly, dysmorphisms, and other variable clinical features. |
2021-12-29 |
2023-08-13 |
human |
| Ece Çepni, Nihan Bilge Satkın, Lia Abbasi Moheb, Maria Eugenia Rocha, Hülya Kayseril. Biallelic TERT variant leads to Hoyeraal-Hreidarsson syndrome with additional dyskeratosis congenita findings. American journal of medical genetics. Part A. 2021-12-10. PMID:34890115. |
hoyeraal-hreidarsson syndrome (hhs) is generally an autosomal recessively inherited subgroup showing growth retardation, microcephaly, cerebellar hypoplasia and severe immunodeficiency. |
2021-12-10 |
2023-08-13 |
Not clear |
| Pauline E Schneeberger, Sheela Nampoothiri, Tess Holling, Dhanya Yesodharan, Malik Alawi, A S Knisely, Thomas Müller, Barbara Plecko, Andreas R Janecke, Kerstin Kutsch. Biallelic variants in VPS50 cause a neurodevelopmental disorder with neonatal cholestasis. Brain : a journal of neurology. vol 144. issue 10. 2021-12-09. PMID:34037727. |
individuals with biallelic hypomorphic variants in vps50, vps51 or vps53 show an overarching neurodegenerative disorder with severe developmental delay, intellectual disability, microcephaly, early-onset epilepsy and variable atrophy of the cerebellum, cerebrum and/or brainstem. |
2021-12-09 |
2023-08-13 |
Not clear |
| Purvi Majethia, Michelle C Do Rosario, Parneet Kaur, Karanvir, Raagul Shankar, Suvasini Sharma, Shahyan Siddiqui, Anju Shukl. Further evidence of muscle involvement in neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy. Annals of human genetics. 2021-12-08. PMID:34878169. |
trappc4-related neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy (mim# 618741) is a recently described trappopathy with clinical findings of developmental delay, seizures, postnatal microcephaly, spasticity, facial dysmorphism, and cerebral and cerebellar atrophy. |
2021-12-08 |
2023-08-13 |
Not clear |
| Tally Lerman-Sagie, Ivana Pogledic, Zvi Leibovitz, Gustavo Malinge. A practical approach to prenatal diagnosis of malformations of cortical development. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. vol 34. 2021-11-25. PMID:34390998. |
these indirect findings include, but are not limited to, ventriculomegaly (lateral ventricles larger than 10 mm), asymmetric ventricles, commissural anomalies, absent cavum septum pellucidum, cerebellar vermian and/or hemispheric anomalies, abnormal head circumference (microcephaly or macrocephaly), multiple cns malformations, and associated systemic defects. |
2021-11-25 |
2023-08-13 |
Not clear |
| Jianhui Zhao, Mei Hou, Haiqiao Wang, Qiuyan Liu, Dianrong Sun, Wei We. Microcephaly, disproportionate pontine, and cerebellar hypoplasia syndrome: Two novel mutations in the CASK gene were discovered in Chinese females. International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience. vol 81. issue 3. 2021-11-24. PMID:33629417. |
microcephaly, disproportionate pontine, and cerebellar hypoplasia syndrome: two novel mutations in the cask gene were discovered in chinese females. |
2021-11-24 |
2023-08-13 |
Not clear |
| Jianhui Zhao, Mei Hou, Haiqiao Wang, Qiuyan Liu, Dianrong Sun, Wei We. Microcephaly, disproportionate pontine, and cerebellar hypoplasia syndrome: Two novel mutations in the CASK gene were discovered in Chinese females. International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience. vol 81. issue 3. 2021-11-24. PMID:33629417. |
microcephaly, disproportionate pontine and cerebellar hypoplasia (micpch) syndrome is a rare and genetic disorder, which is mainly caused by mutations in the cask gene. |
2021-11-24 |
2023-08-13 |
Not clear |
| Hongzhu Chen, Niu Li, Yufei Xu, Guoqiang Li, Cui Song, Ru-En Yao, Tingting Yu, Jian Wang, Lin Yan. Novel compound heterozygous variant of TOE1 results in a mild type of pontocerebellar hypoplasia type 7: an expansion of the clinical phenotype. Neurogenetics. 2021-10-30. PMID:34716526. |
clinical features of the patient were mostly concordant with previous reports but brain deformities (enlarged lateral ventricle and deepened cerebellum sulcus without microcephaly and reduced cerebellar volume) were less severe than in typical pch7 patients. |
2021-10-30 |
2023-08-13 |
Not clear |
| Alessandro Borghesi, Massimo Plumari, Elena Rossi, Claudia Viganò, Rosa Maria Cerbo, Alessia Claudia Codazzi, Enza Maria Valente, Simone Gan. PUS3-related disorder: Report of a novel patient and delineation of the phenotypic spectrum. American journal of medical genetics. Part A. 2021-10-29. PMID:34713961. |
we identified a novel homozygous pus3 frameshift variant in a child with facial dysmorphisms, growth failure, microcephaly, retinal dystrophy, cerebellar hypoplasia, congenital heart defect, and right kidney hypoplasia. |
2021-10-29 |
2023-08-13 |
Not clear |
| Elena Silvia Shelby, Onda Tabita Lupu, Mihaela Axente, Madalina Cristina Leanca, Mihaela Badina, Liliana Padure, Andrada Mirea, Liisa M Pelttar. New VOUS in Maedica. vol 16. issue 1. 2021-10-28. PMID:34221169. |
pathogenic mutations of these gene are responsible of mental retardation and microcephaly with pontine and cerebellar hypoplasia (micpch) syndrome, which overlaps completely with our patient's phenotype. |
2021-10-28 |
2023-08-13 |
Not clear |
| Rony Cohen, Hadassah Goldberg-Stern, Sara Kivity, Ayelet Halevy, Sharon Aharoni, Liora Kornreich, Rachel Straussber. Evolution of EEG Findings in Pontocerebellar Hypoplasia Type 2A: Normal EEG in the First Few Months followed by Abnormal Tracing over the Years. Neuropediatrics. vol 51. issue 6. 2021-10-18. PMID:32629522. |
pontocerebellar hypoplasia (pch) is an autosomal recessive neurodevelopmental and neurodegenerative disorder characterized by cerebellar and pontine hypoplasia, progressive microcephaly, and developmental delay. |
2021-10-18 |
2023-08-13 |
Not clear |
| Ziwei Wang, Chuang Li, Yan Zhao, Ling Li, Yuan Lyu, Hong Cu. [Clinical and genetic analysis of a child with mental retardation and microcephaly with pontine and cerebellar hypoplasia]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. vol 38. issue 10. 2021-10-12. PMID:34625938. |
[clinical and genetic analysis of a child with mental retardation and microcephaly with pontine and cerebellar hypoplasia]. |
2021-10-12 |
2023-08-13 |
Not clear |