Batallion, B Company, Norman, Oklahoma 1998-Present): 3rd Platoon Squad Leader. Maintain vehicles. Responsible for the maintenance, setup, and operation of communication equipment. [charoonsak.50megs.com]

Systemic Features: Septal defects involving both the atrium and the ventricle are consistently present. Pulmonary valve abnormalities are present in some patients. [disorders.eyes.arizona.edu]

Three patients presented with cognitive impairment, reinforcing the association between the disrupted genes (TSPAN7—MRX58, KIAA2022—MRX98, and IL1RAPL1—MRX21/34) and intellectual disability. [bionity.com]

It consists of several subgroups with different cytogenetic and molecular genetic aberrations, clinical presentations and outcomes. [cyberleninka.ru]

Klinikum Münster, DE) Oral presentations from selected abstracts: 12:15-12:30 (9) Cutis laxa and altered amino acid and lipid composition in a new patient with ATP6AP1-CDG & Neonatal cholestasis: a metabolic diagnostic odyssey of our times. [gbiomed.kuleuven.be]

• Disability

  The expression assays did not detect ZDHHC15 gene expression in the patient, thus questioning its involvement in intellectual disability. [onlinelibrary.wiley.com]

  disability, Pai type 1 Family 85285 X-linked intellectual disability, Schimke type 4 Cases 85323 X-linked intellectual disability, Seemanova type 4 Cases 85286 X-linked intellectual disability, Shashi type 9 Cases 85324 X-linked intellectual disability [azkurs.org]

  X-Linked Intellectual Disabilities Sequencing and Deletion/Duplication that also includes the following genes: FMR1 ATP7A HSD17B10 OCRL NDP HPRT1 NHS MECP2 OTC HCCS More info about this panel Non-Specific Intellectual Disability Panel Panel By Genetic [mendelian.co]

  KEYWORDS: IL1RAPL1; KIAA2022; TSPAN7; X-chromosome; ZDHHC15; intellectual disability [ncbi.nlm.nih.gov]

• Developmental Delay

  Overall, the authors concluded that about 14% of cases of developmental delay can be explained by a detectable copy-number variation; their study provides a genetic morbidity map of developmental delays resulting from copy-number variations. [nejm.org]

  Affected individuals presented during the second year of life with hypotonia and developmental delay. [findzebra.com]

  Both males (an uncle and a nephew) presented with neonatal hypotonia, severe developmental delays, progressive quadriparesia, gastroesophageal reflux, autism, steryotypical hand movements, and mildly dysmorphic features. [egl-eurofins.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]

  Most common symptoms of MENTAL RETARDATION, X-LINKED 98; MRX98 Intellectual disability Seizures Global developmental delay Short stature Generalized hypotonia More info about MENTAL RETARDATION, X-LINKED 98; MRX98 SOURCES: UMLS OMIM SCTID MONDO ORPHANET [mendelian.co]

• Short Stature

  This condition is also associated with short stature, a round face, and short hand bones, which is referred to as Albright's hereditary osteodystrophy. [findzebra.com]

  Herein, we report a de novo KIAA2022 nonsense mutation in a 17-year-old female with short stature, microcephaly, severe intellectual disability, poor speech, epilepsy, and autistic behavior. [scicrunch.org]

  Farach LS and Northrup H (2015) No Autistic behavior, microcephaly, short stature 10 Recent Recommendation De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy. de Lange IM, et al. (2016) No ASD or autistic features [gene.sfari.org]

  stature - webbed neck - heart disease 4 cases 2772 CODAS syndrome2820 4 cases 3 cases94095 Simpson-Golabi-Behmel syndrome type 2 4 cases 1389 Congenital enterocyte heparan sulfate deficiency 3 cases93352 Sparse hair - short stature - skin anomalies 4 [fliphtml5.com]

  stature syndrome 1 Family 1497 X-linked complicated corpus callosum dysgenesis 11 Cases 90001 X-linked cone dysfunction syndrome with myopia 10 Families 1661 X-linked corneal dermoid 6 Cases 52503 X-linked creatine transporter deficiency 150 Cases 1145 [azkurs.org]

• Fishing

  However, retrospective application of fluorescence in situ hybridization-(FISH-) banding, locus specific FISH-probes, as well as multiplex ligation-dependent probe amplification and high resolution array-comparative genomic hybridization revealed previously [cyberleninka.ru]

  Nothing is well maintained, and the fish tank on the bottom floor looks like a pool of toxic waste. The price is outrageous for what you get (an interesting walk with some physical activity). [tripadvisor.com.sg]

  Results: Fluorescent in situ hybridisation (FISH) showed that the centromeric breakpoint disrupts a single gene: ARHGEF9 (CDC42 guanine nucleotide exchange factor (GEF) 9). The telomeric break lies in a gene poor region. [jmg.bmj.com]

  Fluorescence in situ hybridization (FISH) A laboratory technique for detecting and locating a specific DNA sequence on a chromosome. [nejm.org]

  Cytogenetics By FISH analysis, array comparative genomic hybridization (CGH), and SNP genotype analysis Lisi et al. (2008) found the microduplication of chromosome 3q29 was between 1.61 and 1.76 Mb in size, with the breakpoints occurring between 2 nearly [findzebra.com]

• Falling

  Main clinical features mild to severe ID with severe language delay and repetitive behaviors falling in the range of an autism spectrum disorder (ASD), facial dysmorphism with round face, strabismus, squint, short nose and prognathism, also cases with [genatlas.medecine.univ-paris5.fr]

  Postnatal microcephaly MedGen UID: 339779 • Concept ID: C1847514 • Finding Head circumference which falls below 2 standard deviations below the mean for age and gender because of insufficient head growth after birth. [ncbi.nlm.nih.gov]

  Any variants that fall outside these regions are not analyzed. Any specific limitations in the analysis of these genes are also listed in the table below. [invitae.com]

• Failure to Thrive

  Failure to thrive MedGen UID: 746019 • Concept ID: C2315100 • Disease or Syndrome Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. [ncbi.nlm.nih.gov]

  Clinical features Johnson et al. (1985) reported a female infant with microcephaly, delayed psychomotor development, hypotonia, failure to thrive, and dysmorphic facies associated with a deletion of chromosome 1q42-qter. [findzebra.com]

  Most affected children are hypotonic and demonstrate failure to thrive. Table 35-1 summarizes the known CDG defects, utilizing the classification scheme proposed in 2008. This includes the mutated genes and major signs and symptoms. [neupsykey.com]

  Citrin deficiency: a novel cause of failure to thrive that responds to a high-protein, low-carbohydrate diet. Pediatrics. 2007 Mar; 119(3):e773-7. PMID: 17332192. [profiles.viictr.org]

• Diarrhea

  The first examples were the diagnosis of congenital chloride diarrhea in a child suspected of having another disorder 109 and the identification of the gene causing the Miller syndrome, a craniofacial disorder. 110 Several studies have used massively [nejm.org]

  4 cases 2772 CODAS syndrome2820 4 cases 3 cases94095 Simpson-Golabi-Behmel syndrome type 2 4 cases 1389 Congenital enterocyte heparan sulfate deficiency 3 cases93352 Sparse hair - short stature - skin anomalies 4 cases 1529 Congenital malabsorptive diarrhea [fliphtml5.com]

• Esotropia

  It is characterized by moderate psychomotor retardation, hypotonia, esotropia, seizures, and ataxia. [neupsykey.com]

  Some patients had dysmorphic features, including round face, short nose, short philtrum, and esotropia, although a specific pattern was not present. Female carriers were unaffected. [findzebra.com]

  30% and 50% cases Single transverse palmar crease Commonly - More than 50% cases Round face Not very common - Between 30% and 50% cases Poor speech Commonly - More than 50% cases Underdeveloped nasal alae Not very common - Between 30% and 50% cases Esotropia [mendelian.co]

  Esotropia MedGen UID: 4550 • Concept ID: C0014877 • Disease or Syndrome A form of ocular misalignment characterized by an excessive convergence of the visual axes, resulting in a "cross-eye" appearance. [ncbi.nlm.nih.gov]

  […] syndrome - heart disease 8 cases Acrofacial dysostosis, Catania type2326 Lelis syndrome 8 cases 1786 Autosomal recessive spastic paraplegia type 28 6 cases140936 Lethal polymalformative syndrome, Boissel type 8 cases 101008 Blepharophimosis - ptosis - esotropia [fliphtml5.com]

• Round Face

  Heart defect – round face – congenital developmental delay is very rare syndrome described in three sibs of one Japanese family and characterized by congenital heart disease, round face with depressed nasal bridge, small mouth, short stature, and relatively [findzebra.com]

  Main clinical features mild to severe ID with severe language delay and repetitive behaviors falling in the range of an autism spectrum disorder (ASD), facial dysmorphism with round face, strabismus, squint, short nose and prognathism, also cases with [genatlas.medecine.univ-paris5.fr]

  face Not very common - Between 30% and 50% cases Poor speech Commonly - More than 50% cases Underdeveloped nasal alae Not very common - Between 30% and 50% cases Esotropia And 52 more phenotypes. [mendelian.co]

  Round face MedGen UID: 116087 • Concept ID: C0239479 • Finding The facial appearance is more circular than usual as viewed from the front. [ncbi.nlm.nih.gov]

• Thin Lips

  Posteriorly rotated pinnae and a small mouth with a thin upper lip have been observed. Camptodactyly and clinodactyly are common. Some patients have mild microcephaly. [disorders.eyes.arizona.edu]

• Seizure

  […] features mild to severe ID with severe language delay and repetitive behaviors falling in the range of an autism spectrum disorder (ASD), facial dysmorphism with round face, strabismus, squint, short nose and prognathism, also cases with generalized seizures [genatlas.medecine.univ-paris5.fr]

  Other features may include hypotonia, poor growth, microcephaly, agenesis of the corpus callosum, and seizures. [findzebra.com]

  Recurrent seizures are usually referred to as EPILEPSY or "seizure disorder." Status epilepticus MedGen UID: 11586 • Concept ID: C0038220 • Disease or Syndrome A life-threatening situation in which the brain is in a continuous state of seizure. [ncbi.nlm.nih.gov]

  Most common symptoms of MENTAL RETARDATION, X-LINKED 98; MRX98 Intellectual disability Seizures Global developmental delay Short stature Generalized hypotonia More info about MENTAL RETARDATION, X-LINKED 98; MRX98 SOURCES: UMLS OMIM SCTID MONDO ORPHANET [mendelian.co]

  Additional, more variable features include spasticity, axial hypotonia, seizures, drooling, gastroesophageal reflux, and lack of sphincter control [cloud-clone.com]

• Hyperactivity

  Hyperactivity MedGen UID: 98406 • Concept ID: C0424295 • Finding Hyperactivity is a state of constantly being unusually or abnormally active, including in situations in which it is not appropriate. [ncbi.nlm.nih.gov]

  He understood simple commands and had a happy disposition and hyperactivity. The third affected child had global developmental delay, but was less severely affected. At age 4, h... [findzebra.com]

  Esch type 7 Cases 85289 X-linked intellectual disability, Vitale type 8 Cases 85290 X-linked intellectual disability, Wilson type 3 Cases 85337 X-linked intellectual disability, Zorick type 6 Cases 85327 X-linked intellectual disability- acromegaly-hyperactivity [azkurs.org]

  Supplementation of omega 3 fatty acids may improve hyperactivity, lethargy, and stereotypy in children with autism spectrum disorders: a meta-analysis of randomized controlled trials. Neuropsychiatr Dis Treat. 2017 Oct 4;13:2531-43. [expertomega3.com]

  In the latter, a boy with developmental/psychomo-tor delay, autism, hyperactivity, speech delay and hypotonia, the sSMC(8) was present at the highest frequency in blood and the only mitotically stable sSMC in cultured lymphoblastoid B-cell lines. [cyberleninka.ru]

• Global Developmental Delay

  Most common symptoms of MENTAL RETARDATION, X-LINKED 98; MRX98 Intellectual disability Seizures Global developmental delay Short stature Generalized hypotonia More info about MENTAL RETARDATION, X-LINKED 98; MRX98 SOURCES: UMLS OMIM SCTID MONDO ORPHANET [mendelian.co]

  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]

  Global developmental delay is a consistent feature manifest as delays in walking and speech and eventual intellectual disability. Feeding difficulties are common. Hypotonia and hypermobile joints are often noted. [disorders.eyes.arizona.edu]

  The third affected child had global developmental delay, but was less severely affected. At age 4, h... [findzebra.com]

  Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. J Med Genet 2010 ;47: 332 - 341 63. Jacquemont S, Reymond A, Zufferey F, et al. [nejm.org]

• Poor or Absent Speech

  The patients had delayed psychomotor development, absent or poor speech development, and postnatal growth retardation, often with microcephaly. [findzebra.com]

Recently, Cooper and colleagues 82 looked at data from 15,767 patients who had undergone array CGH analysis as part of the diagnostic workup. [nejm.org]

Cerebrospinal fluid analysis in the workup of GLUT1 deficiency syndrome: A systematic review Jama Neurology. 70: 1440-1444. [academictree.org]

• Candida

  TL, Liljenqvist U, Görgens H, Hackenberg L, Bullmann V, Tinschert S |►| Acta Orthop Belg. 2008 Oct;74(5):714-9 |►| PMID: 19058713 Identification and characterization of CaApe2--a neutral arginine/alanine/leucine-specific metallo-aminopeptidase from Candida [tu-dresden.de]

Treatment Please input treatment information here. You can also add sub-section(s) at will. Labs working on this disease Please input related labs here. References Please input treatment information here. [pediascape.org]

The take-home message is that principles of the neuroprotective approach may be applied to treatment of schizophrenia, mood and cognitive disorders. [books.google.it]

Treatment Treatment Options: No treatment is available for the generalized condition. [disorders.eyes.arizona.edu]

This fact seems to be related to the worsening of the infection and its treatment and to educational level. * Department of Clinical Psychology and Psychobiology, Faculty of Psychology, University of Santiago de Compostela, Santiago de Compostela, Spain [journals.lww.com]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]

Means and methods for establishing a clinical prognosis of diseases associated with the formation of aggregates of abeta1-42 Info Publication number EP3077533A1 EP3077533A1 EP20140825110 EP14825110A EP3077533A1 EP 3077533 A1 EP3077533 A1 EP 3077533A1 [patents.google.com]

These findings indicate that a favorable prognosis is linked to these aberrations under the mentioned treatment. Supported in parts by the DAAD. [cyberleninka.ru]

PMID: 12572850 Prognosis Boban S, Leonard H, Wong K, Wilson A, Downs J Am J Med Genet A 2018 Jul;176(7):1569-1577. Epub 2018 Apr 28 doi: 10.1002/ajmg.a.38829. [ncbi.nlm.nih.gov]

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]

There is striking phenotypic variability, and the size and extent of the deleted region cannot be used as accurate predictors of prognosis. Some patients have additional problems such as congenital heart disease and seizures. [findzebra.com]

Synonyms x-linked intellectual disability, cantagrel type Etiology Please input defination information here. Diagnosis Please input defination information here. Symptoms Please input defination information here. [pediascape.org]

Lyons, both globally recognized leaders, provide authoritative coverage of all the pediatric ophthalmic conditions you’re likely to encounter in practice, including the latest clinical advances in etiology, diagnosis, and medical and surgical management [books.google.com]

Levy et al. (2009) provided a general review of autism and autism spectrum disorder, including epidemiology, characteristics of the disorder, diagnosis, neurobiologic hypotheses for the etiology, genetics, and treatment options. [ncbi.nlm.nih.gov]

N-3 (Omega-3) Fatty Acids: Effects on Brain Dopamine Systems and Potential Role in the Etiology and Treatment of Neuropsychiatric Disorders. CNS Neurol Disord Drug Targets. 2018. [expertomega3.com]

Study Small and Étude Épidémiologique sur les Petits Âges Gestationnels (EPIPAGE; [Epidemiological Study on Small Gestational Ages]) Study Group Journal of Pediatrics, The, ISSN 0022-3476, 2016, Volume 175, pp. 93 - 99.e1 Journal Article Details Digital [query.library.utoronto.ca]

Levy et al. (2009) provided a general review of autism and autism spectrum disorder, including epidemiology, characteristics of the disorder, diagnosis, neurobiologic hypotheses for the etiology, genetics, and treatment options. [ncbi.nlm.nih.gov]

[…] with TDP-43 neuropathology: a genetic and histopathological analysis Arnett et al. 2007 Relevance of genetics and genomics for prevention and treatment of cardiovascular disease: a scientific statement from the American Heart Association Council on Epidemiology [patents.google.com]

Childhood disability in low- and middle-income countries: Overview of screening, prevention, services, legislation, and epidemiology. Pediatrics. 2007;120 (Supplement 1):S1-55. [ Links ] 30. Mercadante MT, Evans-Lacko S, Paula CS. [scielo.org.pe]

Therefore, these estimates are an indication of the assumed prevalence but may not «Disease names» AND Epidemiology[MeSH:NoExp] be accurate. [fliphtml5.com]

[but] the pathophysiological basis of this condition remains poorly understood. We performed trio-based whole exome sequencing in seven subjects from five non-consanguineous families who presented with either microcephaly or microlissencephaly. [flydiseasemodels.blogspot.com]

The pathophysiological role of OPHN1, however, remains poorly understood. [citeulike.org]

Others, such as muscle-eye-brain disease and Walker–Warburg syndrome, were well known, but elucidation of their relation to glycosylation has provided new insights into their pathophysiology and opens possibilities for therapy. [neupsykey.com]

Genetics and pathophysiology of mental retardation. Eur. J. Hum. Genet. 14, Ropers, H.H., and Hamel, B.C. (2005). X-linked mental retardation. Nat. Rev. Genet. 6, Kleefstra, T., and Hamel, B.C. (2006). [docplayer.net]

[…] and treatment of cardiovascular disease: a scientific statement from the American Heart Association Council on Epidemiology and Prevention, the Stroke Council, and the Functional Genomics and Translational Biology Interdisciplinary Working Group Kohara [patents.google.com]

Content type: Research Incidental screen positive findings in a prospective cohort study in Matlab, Bangladesh: insights into expanded newborn screening for low-resource settings Newborn screening programs are essential preventative public health initiatives [ojrd.biomedcentral.com]

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]

Defining the Optimal Target Population for Trials of Polyunsaturated Fatty Acid Supplementation Using the Erythrocyte Omega-3 Index: A Step Towards Personalized Prevention of Cognitive Decline? J Nutr Health Aging. 2018;22(8):982-98. [expertomega3.com]

Preventing Smoking Relapse via Web-Based Computer-Tailored Feedback: A Randomized Controlled Trial. Journal of Medical Internet Research, 14 (4), 87-102. DOI: 10.2196/jmir.2057 Published ten Broeke, R. H. M., Hendrickx, R. P. [cris.maastrichtuniversity.nl]