..., growth traced parallel to 97th percentile of growth curve. Karyotype analysis and fibrillin gene analysis were normal. As she had mild intellectual disability and minor dysmorphic features (broad forehead, mild hypertelorism, long philtrum, thin upper lip and a prominent chin dimple, bilateral...

...). However, the physiopathology of STXBP1 pathogenic variants is not yet fully understood. Case Presentation: Herein, we report a patient presenting intellectual disability, early onset seizures, and autism. Clinical exome sequencing identified a novel monoallelic splice pathogenic variant STXBP1...

...Gianmaria Miolo; Davide Colavito; Lara Della Puppa; Giuseppe Corona Introduction: SETBP1 gene variants that decrease or eliminate protein activity have been associated with phenotypes characterized by speech apraxia and intellectual disabilities. This condition, distinctly separated from Schinzel...

... Intellectual disability Agenesis of corpus callosum Duplication Established Facts Horizontal gaze palsy with progressive scoliosis-2 (HGPPS2, MIM 617542) with impaired intellectual development is a rare autosomal recessive disorder associated with biallelic pathogenic variants in the DCC...

... significance. Our cases had a comorbidity rate for attention deficit hyperactivity disorder (ADHD) as 70%. Various types of neuropsychiatric symptoms and diagnoses were detected including ADHD, anxiety disorder, intellectual disability, delay in speech, and febrile convulsion among the parents. Conclusion...

... or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. 2023 Xia-Gibbs syndrome Pes cavus Conjunctival melanosis Craniosynostosis Intellectual disability Established Facts Xia-Gibbs syndrome is a rare autosomal dominant...

...Karima Rafat; Mohamed S. Abdel-Hamid; Ghada M.H. Abdel-Salam Introduction: We report on a 4-year-old female patient who presented with severe intellectual disability, autistic features, hyperlaxity of joints, and progressive scoliosis. Whole-exome sequencing identified a de novo missense variant (c...

...Eyyup Uctepe; Ahmet Yesilyurt; Fatma Nisa Esen; Sait Tümer; Hanifenur Mancılar; Fatma Mujgan Sonmez Introduction: Hereditary forms of intellectual disability (ID), an estimated prevalence ranging between 1% and 3% in the general population, are among the most important problems in health care...

...Hamide Betul Gerik-Celebi; Hilal Aydin; Hilmi Bolat; Gul Unsel-Bolat Introduction: Global developmental delay (DD), intellectual disability (ID), and autism spectrum disorder (ASD) are mainly evaluated under the neurodevelopmental disorder framework. In this study, we aimed to determine the genetic...

... or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. 2023 Congenital disorders of glycosylation Autism spectrum disorder ALG8-CDG Autism Intellectual disability Established Facts The prevalence of autism spectrum...

... Presentation: Two siblings, 12 and 9 years old, were referred to us because of intellectual disability, neurodevelopmental delay, and dysmorphic facial features. Physical examination revealed hypertelorism, strabismus, small mouth, prognathism, short neck, stiff skin, and brachydactyly. Discussion...

... enzyme involved in protein turnover and TGF-β signaling during fetal and neuronal development. USP9X variants in females are primarily associated with complete loss-of-function (LOF) alleles, leading to neurodevelopmental delay and intellectual disability, as well as a wide range of congenital anomalies...

...Muhammad Younus; Memoona Rasheed; Zhaohan Lin; Saeed A. Asiri; Ibrahim A. Almazni; Mohammed Ali Alshehri; Sarfraz Shafiq; Imran Iqbal; Amjad Khan; Hanif Ullah; Muhammad Umair; Ahmed Waqas Introduction: Intellectual disability (ID) is a lifelong disability that affects an individual’s learning...

... advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. 2022 Down syndrome Intellectual disability...

...Rita Quental; Joana Pires Borges; Helena Santos; Miguel Leão Introduction: Pathogenic variants in HIVEP2 have been associated with a neurodevelopmental disorder mainly characterized by intellectual disability, severe language impairment, and motor developmental delay. Since its first description...

... and thoracic malformations, cardiovascular defects, anogenital abnormalities like cryptorchidism, psychomotor delay, and intellectual disability. Case presentation: We describe a female patient with typical manifestations of duplication 12q and epilepsy. She had a normal 46,XX karyotype. The microarray assay...

...Hilmi Bolat; Gül Ünsel-Bolat; Hatice Derin; Aşkın Şen; Serdar Ceylaner Objective: Pathogenic mutations of the TRAPPC9 gene are the rare genetic causes of autosomal recessive intellectual disability (ID). There are several features that are not fully penetrant such as microcephaly, dysmorphic facial...

... and/or learning disabilities; no formal cognitive evaluations have been reported in these cases. Patients with microcephaly and chorioretinopathy may also show microphthalmia, intellectual disability, brain malformations, short stature and/or dysmorphic features [Jones et al., 2014; Mears et al., 2015...

...Ayberk Turkyilmaz; Erdal Kurnaz; Atilla Cayir Intellectual disability (ID) is characterized by limited or insufficient development of mental abilities, including intellectual functioning impairments, such as learning and understanding cause-effect relationships. Some cases have ID as the only...

... cells of DS individuals was also presented and examples of how this system enables elucidation of human-specific cellular and molecular characteristics underlying T21 were provided. Down syndrome Intellectual disability Language impairment Mouse models Neurodevelopmental disorders Alzheimer’s...