The first presented neurosensorial hypoacusia, fatigue, heart block and a cerebral arteriovenous malformation nidus, while the latter had borderline intellectual functioning and signs of muscular involvement. [ncbi.nlm.nih.gov]

This probe will only generate a signal when the mutation is present. [resnovaweb.it]

• Disability

  Intellectual disability (ID), sometimes also referred to as ‘mental retardation’ and ‘cognitive disability’, is a lifelong disability that presents in infancy or the early childhood years and is typically measured in three domains: intelligence (IQ), [dnatesting.uchicago.edu]

  Systematic phenomics analysis deconvolutes genes mutated in intellectual disability into biologically coherent modules.Am J Hum Genet. 2016;98(1):149-64. [ Links ] 45. Jamra R. Genetics of autosomal recessive intellectual disability. [scielo.org.pe]

  Journal Hum Mol Genet 20:1285-9 (2011) DOI: 10.1093/hmg/ddq569 Reference PMID: 21868677 Authors Hashimoto S, Boissel S, Zarhrate M, Rio M, Munnich A, Egly JM, Colleaux L Title MED23 mutation links intellectual disability to dysregulation of immediate [genome.jp]

  […] a �disability.� A person may have a disability, but the disability is not the totality of the person.\ Risk of Transmitting a Genetic Disorder The risk of transmitting a genetic disorder is usually given in probability values, e.g., 25%, 50%. [www2.loras.edu]

• Short Stature

  Homozygosity mapping in a family with microcephaly, mental retardation, and short stature to a Cohen syndrome region on 8q21.3-8q22.1: redefining a clinical entity. Am J Med Genet. 2000 Jun 5;92(4):285-92. Mirhosseini SA, Holmes LB, Walton DS. [disorders.eyes.arizona.edu]

  Many affected individuals have short stature, and some have later onset of muscular hypertonia and spasticity. Diagnosis is made upon observing the aforementioned symptoms. [cags.org.ae]

  Prader-Willi Syndrome Chromosomal Deletion of part of short arm of chromosome 15, paternal copy. An example of genomic imprinting. Mental retardation, short stature, hypotonia, obesity and huge appetite after infancy. [kumc.edu]

  Ragged Red Fibers (MERRF) progressive myoclonic epilepsy “Ragged Red Fibers” are clumps of diseased mitochondria that accumulate in the subsarcolemmal region of the muscle fiber and appear when muscle is stained with modified Gömöri trichrome stain short [clubalthea.com]

  stature, craniofacial dysmorphism, and congenital heart defects (多発性関節脱臼-低身長-頭蓋顔面形態異常-先天性心奇形) B3GAT3 Norwalk virus infection, resistance to B12QTL1(ビタミンB12血漿レベルQTL1) FUT2 PNH1 (Paroxysmal nocturnal hemoglobinuria, somatic; 発作性夜間ヘモグロビン尿1型) PIGA PNH2 [jcggdb.jp]

• Fever

  PY - 2005/5 Y1 - 2005/5 KW - Abnormalities, Multiple KW - Adolescent KW - Adult KW - Child KW - Female KW - complications: Fever KW - Humans KW - Inheritance Patterns KW - genetics: Keratoconus KW - Male KW - genetics: Mental Retardation KW - genetics [research.manchester.ac.uk]

  Hepatosplenomegaly, anemia, fever, sometimes CNS deterioration. Death by age 3. Hunter's Syndrome Lysosomal Storage Disease X-Linked Recessive. [kumc.edu]

  He had a generalized tonic clonic seizure associated with fever at the age of nine months. His head circumference was 47 cm (50th percentile) and length was 78 cm (50th percentile). There were no focal neurological signs. [neurologyindia.com]

• Muscle Spasticity

  MalaCards based summary : Mental Retardation, Autosomal Recessive 40, also known as mrt40, is related to alacrima, achalasia, and mental retardation syndrome and microcephaly, and has symptoms including abnormal pyramidal signs and muscle spasticity. [malacards.org]

• Narrow Face

  face, bushy eyebrows with synophrys, hypotelorism, large nose with long columella, short philtrum, and full upper lip. [cags.org.ae]

• Global Developmental Delay

  The term ‘global developmental delay’ is typically reserved for younger children (less than 5 years of age), whereas the term ID is typically applied to older children when IQ testing is valid and reliable. [dnatesting.uchicago.edu]

  The parents had a nonconsanguineous marriage and had all the four children affected with global developmental delay [Figure - 1]. The proband (II-2) was born following an uneventful pregnancy and delivery. Birth weight was 3.5 kg. [neurologyindia.com]

  Comprehensive Evaluation of the Child With Intellectual Disability or Global Developmental Delays. Pediatrics. 2014;134(3):e903-18. [ Links ] 84. OMIM. Online Mendelian Inheritance in Man. [scielo.org.pe]

• Hyperreflexia

  It was described in 1934 by Folling in 10 children with ID, hypertonia, and hyperreflexia, with a musty odor in urine and sweat. Seizures and tremors are common, as are eczema and psychotic manifestations. [emedicine.medscape.com]

Other features include a Chief Complaints section addressing the workup and treatment of 50 signs and symptoms, plus a medication index, syndromes glossary, surgical glossary, laboratory values, and tables all for quick reference saving you time and helping [books.google.com]

Metabolic workup was unremarkable as was molecular testing which ruled out fragile X syndrome. High-resolution chromosome analysis was normal. Array CGH testing at 1-Mb resolution was normal as were bone X rays, cerebellar MRI, and EEG. [omim.org]

Other features include a Chief Complaints section addressing the workup and treatment of 50 signs and symptoms, plus a medication index, syndromes glossary, surgical glossary, laboratory values, and tables all for quick reference saving you time and helping [books.google.com]

Treatment and Outcome Treatment of Peters anomaly includes treatment of the associated glau- coma. Typically, penetrating keratoplasty is considered when corneal opacication is bilateral. [vdocuments.in]

Overview A diagnosis of intellectual disability (ID) carries with it certain unique treatment needs that must be understood and addressed. [emedicine.medscape.com]

[…] is ongoing, treatment options are currently limited; vitamins are frequently prescribed, though the evidence for their effectiveness is limited.[15] Pyruvate has been proposed in 2007 as a treatment option.[16] N-acetyl cysteine reverses many models [clubalthea.com]

This disease is characterized by a very severe clinical presentation poor prognosis, with a severe central nervous system involvement, whose predominant symptoms are marked cerebral atrophy and a decreased myelinization, in addition to the classical severe [iofbonehealth.org]

When it is connected with fetal developmental deviations, the prognosis depends on the infant's general condition. [emedicine.medscape.com]

Prognosis Individuals with mild to moderate mental retardation are frequently able to achieve some self-sufficiency and to lead happy and fulfilling lives. [medical-dictionary.thefreedictionary.com]

Intellectual disability: definition, etiological factors, classification, diagnosis, treatment and prognosis. Salud Pública México. 2008;50:132-41. [ Links ] 29. Maulik PK, Darmstadt GL. [scielo.org.pe]

The etiology remains unknown in up to 80% of cases with mild intellectual disability (4). Depending on the underlying etiology, the recurrence risk can vary between the background and 50%. [dnatesting.uchicago.edu]

Mental retardation and multiple congenital anomalies of unknown etiology: frequency of occurrence in similarly affected sibs of the proband. Birth Defects Orig Artic Ser 1978 ; 14 : 127 – 137. 11. Hussain, R, Bittles, AH. [cambridge.org]

Review of recent epidemiological studies of mental retardation: prevalence, associated disorders, and etiology. Am J Ment Retard 1987 ; 92 : 243 –54. ↵ Curry CJ, Stevenson RE, Aughton D, et al. [jmg.bmj.com]

MR is characterized by high heterogeneous etiology [3], as an important number of studies indicate that the MR may result from genetic impairment [4, 5, 6]. [latunisiemedicale.com]

Among the genetic ones, mental retardation is etiologically heterogeneous and usually linked to syndromic forms. There are still few known genes associated with this phenotype, although for some disorders they are well established. [siicsalud.com]

Relevant External Links for NSUN2 Genetic Association Database (GAD) NSUN2 Human Genome Epidemiology (HuGE) Navigator NSUN2 Atlas of Genetics and Cytogenetics in Oncology and Haematology: NSUN2 No data available for Genatlas for NSUN2 Gene Mutations in [genecards.org]

Leonard H, Wen X: The epidemiology of mental retardation: challenges and opportunities in the new millennium. Ment Retard Dev Disabil Res Rev 2002; 8: 117–34. MEDLINE 2. [aerzteblatt.de]

[…] workshops and courses - to create a large data-base of patients with clinically well defined MR, both syndromic and non-syndromic - identify cryptic genomic rearrangements through molecular cytogenetic analysis - sequence MR genes and analyse the molecular epidemiology [cordis.europa.eu]

These statistics oscillate among the different epidemiological studies. MR is characterized by high heterogeneous etiology [3], as an important number of studies indicate that the MR may result from genetic impairment [4, 5, 6]. [latunisiemedicale.com]

Epidemiology, Pathogenesis, and Ocular Manifestations Most cases are sporadic, although autosomal recessive and autosomal dominant pedigrees have been reported.4 Microphthalmos in associa- tion with dermal aplasia and sclerocornea is known as MIDAS syn [vdocuments.in]

Genetics and pathophysiology of mental retardation. Eur J Hum Genet 2006; 14: 701–13. MEDLINE 3. Chiurazzi P, Oostra BA: Genetics of mental retardation. Curr Opin Pediatr 2000; 12: 529–35. MEDLINE 4. Roizen NJ, Patterson D: Down's syndrome. [aerzteblatt.de]

Despite recent progress in research the causes and the pathophysiology of MR remains obscure. It is essential to investigate this in order to develop future diagnostic and therapeutic strategies. [cordis.europa.eu]

O., Lehmer G., Hinderlich S., Reutter W., Regulation and pathophysiological implications of UDP-GlcNAc 2-epimerase/ManNAc kinase (GNE) as the key enzyme of sialic acid biosynthesis, Biol Chem., 2009, 390, 591-599. PubMed Google Scholar [58] Rafiq M. [degruyter.com]

Newborn screening and immediate treatment for PKU and hyperthyroidism can usually catch these disorders early enough to prevent retardation. Good prenatal care can also help prevent retardation. [medical-dictionary.thefreedictionary.com]

Increasingly, a lifelong low-phenylalanine diet is recommended to prevent later deterioration in cognitive functions. [emedicine.medscape.com]

See the video Genetic Screening: The Ultimate Preventive Medicine (KCTS/Seattle, 1980). [www2.loras.edu]

Prevention of intellectual and developmental disabilities. Intellect Dev Disabil. 2009; 47(4):320-2. [ Links ] 79. Calderón-González R, Calderón-Sepúlveda RF. Prevention of mental retardation. Rev Neurol. 2003;36(2):184-94. [ Links ] 80. [scielo.org.pe]