WebMay 24, 2006 · Abstract. Mental retardation (MR) is defined as an overall intelligence quotient lower than 70, associated with functional deficit in adaptive behavior, such as daily-living skills, social skills ... WebMental retardation, X‑linked syndromic, Christianson type. 300243. THOC2. Mental retardation, X‑linked 12. 300957. Liste enthält derzeit bekannte Beispiele und ist wahrscheinlich nicht vollständig. Tab. 3. Übersicht X‑chromosomaler Gene: De-novo-Mutationen bei Mädchen, vererbte Mutationen bei Jungen. Gen.
Intellectual disability, X-linked syndromic, Turner type
WebTurner-type X-linked syndromic intellectual developmental disorder (MRXST) is a neurodevelopmental disorder with a highly variable phenotype. Some affected families … WebJun 11, 2024 · Rationale: Mutations of connector enhancer of kinase suppressor of Ras-2 (CNKSR2) gene were identified as the cause of Houge type of X-linked syndromic mental retardation. The mutations of CNKSR2 gene are rare, we reporta patient carrying a novel nonsense mutation of CNKSR2,c.625C > T(p.Gln209∗) and review the clinical features and … literature review about online learning
X-chromosomale Entwicklungsstörungen im weiblichen Geschlecht
WebApr 3, 2024 · The Houge type of X-linked syndromic mental retardation is an X-linked intellectual disability (XLID) recently recorded in the Online Mendelian Inheritance in Man (OMIM) and only 8 cases have been reported in literature thus far. We present two brothers with intractable seizures and syndromic intellectual disability with symptoms consisting … WebMutations in KDM5C gene are linked to X-linked mental retardation, the syndromic Claes-Jensen-type disease. This study focuses on non-synonymous mutations in the KDM5C ARID domain and evaluates the effects of two disease-associated missense mutations (A77T and D87G) and three not-yet-classified missense mutations (R108W, N142S, and R179H). We … Intellectual disability (ID), also known as general learning disability in the United Kingdom and formerly mental retardation, is a generalized neurodevelopmental disorder characterized by significantly impaired intellectual and adaptive functioning. It is defined by an IQ under 70, in addition to deficits … See more Intellectual disability (ID) becomes apparent during childhood and involves deficits in mental abilities, social skills, and core activities of daily living (ADLs) when compared to same-aged peers. There often are no … See more By most definitions, intellectual disability is more accurately considered a disability rather than a disease. Intellectual disability can be distinguished … See more Intellectual disability affects about 2–3% of the general population. 75–90% of the affected people have mild intellectual disability. Non-syndromic or idiopathic ID accounts for … See more People with intellectual disabilities are often not seen as full citizens of society. Person-centered planning and approaches are seen as … See more Among children, the cause of intellectual disability is unknown for one-third to one-half of cases. About 5% of cases are inherited. Genetic … See more According to both the American Association on Intellectual and Developmental Disabilities and the American Psychiatric Association's Diagnostic and Statistical Manual of Mental Disorders (DSM-IV), three criteria must be met for a … See more Intellectual disability has been documented under a variety of names throughout history. Throughout much of human history, society was unkind to those with any type of disability, and people with intellectual disability were commonly viewed … See more imported binary