Persons with Mental RetardationAdults With Mental RetardationXLMRSyndrome Mental retardationPhenotypeFMR2ChromosomeSevereHumansCongenitalSchizophreniaGeneticFragileAutismMutationAutosomal recessiveCharacterized by mild to moderateRecessiveNeurological disordersMutationsSyndromicMalesIntellectualProteinDysmorphicMildMeSHMECP2DisordersPsychiatricClinical1973SymptomsInheritanceHealthHumanDiseasePatientsAlphaConditionStudyExperienceReviewAccountMouse
Persons with Mental Retardation1
- Implement the December 2001 research agenda of the Workshop on Emotional and Behavioral Health in Persons with Mental Retardation/Developmental Disabilities (National Institutes of Health, Workshop on Emotional and Behavioral Health in Persons with Mental Retardation/Developmental Disabilities: Research Challenges and Opportunities, November 29-December 1, 2001). (nih.gov)
Adults With Mental Retardation1
- Oral health profile in an institutionalized population of Italian adults with mental retardation. (bvsalud.org)
XLMR2
- Mental retardation affects 30 to 50% more males than females, and X-linked mental retardation (XLMR) is thought to account for the major part of this sex bias. (nih.gov)
- Recently, it has been shown that various forms of X-linked mental retardation (XLMR) have a strong association with skewed XCI in female carriers, but the mechanisms underlying this skewing are unknown. (ox.ac.uk)
Syndrome Mental retardation1
- These include: Coffin-Lowry syndrome DDX3X syndrome MASA syndrome MECP2 duplication syndrome Mental retardation and microcephaly with pontine and cerebellar hypoplasia X-linked alpha thalassemia mental retardation syndrome Following is a list of genes located on the X chromosome and linked to intellectual disability. (wikipedia.org)
Phenotype4
- The patients showed a strikingly uniform phenotype comprising severe mental handicap, characteristic dysmorphic facies, genital abnormalities, and an unusual, mild form of hemoglobin H disease. (findzebra.com)
- Duplication of one or several of the genes within the 650 kb interval is likely to be responsible for the mental retardation phenotype seen in our patient. (bmj.com)
- Subsequently, we comprehensively described patient's clinical features as compared to phenotype and symptoms of other known congenital coenzyme Q5-linked cases. (bvsalud.org)
- These results formally establish causal association of biallelic COQ5 mutation with pathology, outline a core COQ5-linked phenotype, and identify mRNA mis-splicing as the molecular mechanism underlying all COQ5 variant-linked pathology to date. (bvsalud.org)
FMR23
- FMR2: Fragile mental retardation 2 (FMR2: synonym AFF2), the protein belongs to the AFF family which currently has four members: AFF1/AF4, AFF2/FMR2, AFF3/LAF4 and AFF4/AF5q31. (wikipedia.org)
- This showed that the four known genes involved in non-syndromic mental retardation in Xq28, FMR2 , SLC6A8 , MECP2 , and GDI1 , were not involved in the translocation. (bmj.com)
- Loss of FMR2 gene transcription causes mental retardation. (sdbonline.org)
Chromosome7
- 1981), with mental retardation and alpha-thalassemia without molecular abnormalities of the alpha-globin gene complex on chromosome 16p. (findzebra.com)
- In this study, 40 patients with non-specific X linked mental retardation were analysed with full coverage, X chromosomal, bacterial artificial chromosome arrays. (ncl.ac.uk)
- Defining the cause of skewed X-chromosome inactivation in X-linked mental retardation by use of a mouse model. (ox.ac.uk)
- Extreme skewing of X-chromosome inactivation (XCI) is rare in the normal female population but is observed frequently in carriers of some X-linked mutations. (ox.ac.uk)
- 18- 21 Xq28 is a highly gene rich region of the human X chromosome and we focused on the X chromosome breakpoint as the identification of a disrupted gene here would be a rapid way to identify a further candidate gene for X linked mental retardation within Xq28. (bmj.com)
- It is a recessive disorder linked with the chromosome X and therefore mainly affects males. (home-remedies-for-you.com)
- It is linked to the TBCE gene on chromosome 1q42-43 which encodes for the tubulin-specific chaperone E protein [2-4]. (who.int)
Severe5
- MCT8-specific thyroid hormone cell transporter deficiency (THCT deficiency) is an inherited disorder that is characterized by severe mental retardation, an impaired ability to speak, diminished muscle tone (hypotonia), and/or movement abnormalities. (mentalhealthhelpcenter.com)
- The authors describe their recent clinical experience using clozapine in treatment-refractory patients with mental retardation and severe psychiatric illness. (psychiatrist.com)
- Aarskog Syndrome can cause severe genital anomalies and mental retardation. (home-remedies-for-you.com)
- Though this syndrome causes severe mental retardation in some children, it generally doesn't harm the mental state too much. (home-remedies-for-you.com)
- All patients had severe growth retardation, distinct phenotypic features and hypoparathyroidism. (who.int)
Humans2
- Intriguingly, he noted mutations in other molecules involved with Rac have been linked to mental retardation in humans. (livescience.com)
- Malfunctions in the epigenetic machinery during development have been linked to several major pathologies in humans, including chromosomal instabilities (e.g. (utoronto.ca)
Congenital1
- It is characterized by congenital hypoparathyroidism, growth and mental retardation with distinct phenotypic features. (who.int)
Schizophrenia2
- A small chunk of DNA linked to schizophrenia, mental retardation, and autism may change the way we think about disease. (technologyreview.com)
- Epigenetic changes during development have also been linked to psychiatric disorders, including schizophrenia, bipolar disorder, and depression. (utoronto.ca)
Genetic5
- Great progress has been made in recent years in the identification of chromosomal abnormalities and genetic changes involved in mental retardation (MR)," says Professor Linda Van Aelst, Ph.D., who led the CSHL research team. (scienceblog.com)
- Non-specific X linked mental retardation with aphasia exhibiting genetic linkage to chromosomal region Xp11. (bmj.com)
- THCT deficiency is inherited as an X-linked genetic disorder. (mentalhealthhelpcenter.com)
- Alpha-thalassemia x-linked intellectual disability syndrome is a genetic disease, which means that it is caused by one or more genes not working correctly. (mentalhealthhelpcenter.com)
- These genetic abnormalities cause the physical features and the mental capacities of a person to be severely distorted. (home-remedies-for-you.com)
Fragile3
- Fragile XE syndrome is inherited in an X-linked pattern. (medlineplus.gov)
- Since FXS cannot always be identified by cytogenetic analysis, molecular testing of the fragile X mental retardation 1 CGG repeat was performed in 440 samples. (wjgnet.com)
- Fragile-X), and mental retardation (e.g. (utoronto.ca)
Autism1
- Without changing the DNA sequence, changes in gene expression by epigenetic signaling could affect tumor formation, disease progression, aging-related mental retardation and autism, as well as intergenerational prenatal influences to offspring (imprinting). (sciencewatch.com)
Mutation2
- A number sign (#) is used with this entry because X-linked alpha-thalassemia/mental retardation syndrome is caused by mutation in the ATRX gene (300032) on Xq21. (findzebra.com)
- The X-linked mental retardation-hypotonic facies syndrome (309580) is also caused by mutation in the ATRX gene. (findzebra.com)
Autosomal recessive3
- Sanjad Sakati syndrome or hypoparathyroidism-retardation-dysmorphism (HRD) is an autosomal recessive disorder that was first described in 1988 [1]. (who.int)
- These diseases are autosomal recessive, except for mucopolysaccharidosis type II, which is X-linked. (medscape.com)
- [ 7 ] Kohn recognized an autosomal recessive variant of SED tarda associated with mental retardation. (medscape.com)
Characterized by mild to moderate2
- X-linked mental retardation with hypotonia is a condition characterized by mild to moderate intellectual disability that affects only males. (mentalhealthhelpcenter.com)
- It is characterized by mild to moderate mental retardation and 'elfin' facial features. (neatorama.com)
Recessive4
- This syndrome is X-linked recessive and results from mutations in the ATRX gene. (ox.ac.uk)
- 2. This condition is inherited in an X-linked recessive pattern. (mentalhealthhelpcenter.com)
- 4. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. (mentalhealthhelpcenter.com)
- X-linked intellectual disability refers to medical disorders associated with X-linked recessive inheritance that result in intellectual disability. (wikipedia.org)
Neurological disorders1
- Indeed, problems at the synapse - in their formation and in the mechanisms through which the strength, or plasticity, of their connections are regulated - are thought to contribute to numerous mental and neurological disorders. (scienceblog.com)
Mutations6
- Mutations in this gene cause X-linked intellectual disability and epilepsy. (wikipedia.org)
- Mutations in GDI1 have been linked to X-linked nonspecific mental retardation. (thermofisher.com)
- Mutations in the gene encoding one of the enzymes we studied, PHF8, cause a type of inherited mental retardation. (sciencewatch.com)
- Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation. (mpg.de)
- Mutations in this gene have been associated with X-linked mental retardation. (novusbio.com)
- Exacerbated Grip84/cg7716-linked developmental aberration versus single mutations strongly suggests interactive or coinciding gene functions. (bvsalud.org)
Syndromic5
- Mental retardation, X-linked, syndromic, Bain type (MRXSB) occurs through variations in the HNRNPH2 gene, and its shared neurodevelopmental phenotypes involve seizures, feeding problems, and hypotonia. (tgen.org)
- A female patient with non-syndromic mental retardation was shown by high resolution GTL banding to have inherited an apparently balanced translocation, 46,X,t(X;8)(q28;q12)mat. (bmj.com)
- 1, 2 To date, four genes responsible for non-syndromic X linked mental retardation have been identified using this method. (bmj.com)
- We have investigated a female patient with non-syndromic mental retardation who has inherited an apparently balanced X;autosome translocation, 46,X,t(X;8)(q28;q12)mat. (bmj.com)
- Four genes within Xq28 have previously been identified that when mutated result in non-syndromic mental retardation. (bmj.com)
Males5
- X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. (ox.ac.uk)
- As with most X-linked disorders, males are more heavily affected than females. (wikipedia.org)
- X-linked intellectual disability accounts for ~16% of all cases of intellectual disability in males. (wikipedia.org)
- X linked alpha thalassaemia/mental retardation: spectrum of clinical features in three related males. (ox.ac.uk)
- We describe three males (two brothers and a cousin) who have the X linked alpha thalassaemia/mental retardation (ATR-X) syndrome. (ox.ac.uk)
Intellectual3
- Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70. (mentalhealthhelpcenter.com)
- Several X-linked syndromes include intellectual disability as part of the presentation. (wikipedia.org)
- Intellectual disability or mental retardation? (cdc.gov)
Protein2
- The discovery is important, in part, because deficits of the signaling protein in question, called oligophrenin-1 (OPHN1), have been previously linked with X-linked mental retardation. (scienceblog.com)
- Transfer RNA (tRNA) is an adapter molecule that links a specific codon in mRNA with its corresponding amino acid during protein synthesis. (nature.com)
Dysmorphic1
- Familial eosinophilic cellulitis, dysmorphic habitus, and mental retardation. (medscape.com)
Mild1
- About 800 000 children each year are affected by lead exposure, leading to lower intelligence quotients and potential mild mental retardation. (who.int)
MeSH1
- For example, Snyder Robinson Syndrome is a new disease SCR that is mapped to the MeSH descriptor Mental Retardation, X-Linked. (bvsalud.org)
MECP21
- In contrast to other MBD family members, MECP2 is X-linked and subject to X inactivation. (wikipedia.org)
Disorders3
- 2000). Diagnostic and statistical manual of mental disorders . (springer.com)
- The revision was made in response to criticism this year that the guidelines listed homosexuality alongside mental retardation and personality disorders. (pravda.ru)
- High-level exposure can cause central nervous system disorders, mental impairment, retardation and death. (who.int)
Psychiatric2
- There is a paucity of data on the use of clozapine in patients with mental retardation and comorbid psychiatric illness. (psychiatrist.com)
- The current investigation lends support to the conclusion that clozapine appears to be safe, efficacious, and well tolerated in individuals with mental retardation and comorbid psychiatric illness. (psychiatrist.com)
Clinical1
- Listed below are links related to a variety of clinical problems, therapy, mental health organizations, and more. (socialpsychology.org)
19731
- The APA declassified homosexuality as a mental disorder in 1973. (pravda.ru)
Symptoms1
- What are the symptoms for x-linked mental retardation with hypoton. (mentalhealthhelpcenter.com)
Inheritance2
- 1990) described the syndrome in a 21-year-old male and his brother who had died earlier, suggesting X-linked inheritance. (findzebra.com)
- A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. (medlineplus.gov)
Health5
- You've heard it said that the Harris County Jail is the largest mental health facility in Texas. (offthekuff.com)
- Three Harris County Sheriff's deputies will have new partners riding shotgun soon, if county officials approve a pilot program pairing them with mental health workers to deal with mentally disturbed suspects. (offthekuff.com)
- Here's yet another story about the forthcoming disaster in mental health care that is about to be perpetuated by the Legislature. (offthekuff.com)
- Mental health professionals said Thursday they still were not satisfied that the change accurately characterizes the matter. (pravda.ru)
- More than 30 years after the mental health community declassified homosexuality as a mental disorder, it is disappointing that the Pentagon still continues to mischaracterize it as a `defect,' said Democratic Rep. Marty Meehan, a member of the House Armed Services Committee. (pravda.ru)
Human3
- Porteous and Burn (1990) described a 6-year-old boy who had a maternal uncle with an X-linked mental retardation syndrome, and suggested that their case resembled 2 brothers previously thought to have an atypical form of the Coffin-Lowry syndrome (303600) (illustrated in Smith's Recognizable Patterns of Human Malformation, Jones, 1988). (findzebra.com)
- The results are discussed in relation to human malformations and mental retardation. (cdc.gov)
- Given the conserved cross-phyla homolog function, the data also strongly support mitotic and/or proliferative disruption linked to aberrant microtubule nucleation in progenitor brain cells as key mechanistic defects for human microcephaly. (bvsalud.org)
Disease1
- More than 25% of the global burden of disease is linked to environmental factors, including chemicals exposures. (who.int)
Patients1
- see alpha-thalassemias, 141800) and mental retardation in 3 unrelated patients of northern European descent. (findzebra.com)
Alpha2
- Alpha thalassaemia-mental retardation, X linked. (ox.ac.uk)
- 1991) suggested that this condition be called 'X-linked alpha-thalassemia/mental retardation' (ATR-X) to distinguish it from the deletion form. (findzebra.com)
Condition1
- Condition X-linked Mental Retardation With Hypoton. (mentalhealthhelpcenter.com)
Study1
- See a Chinese study linking mental retardation and low IQs to fluoride in water. (eastcountymagazine.org)
Experience1
- Still there are some who may experience retardation of their locomotor capacities. (home-remedies-for-you.com)
Review1
- This review retardation. (cdc.gov)
Account1
- 10%) than the 23% that would be required to account for a 30% male excess of mental retardation. (nih.gov)
Mouse1
- Here, we present a novel, statistically robust approach that forges links between 148 MR-associated CNVs and phenotypes from approximately 5,000 mouse gene knockout experiments. (ed.ac.uk)