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Psychomotor Retardation - Epilepsy and Craniofacial Dysmorphism

PMRED


Presentation

  • The ‏ الصفحة 9 - given in the appendix to the Annex to the present convention. If the language used is neither English nor French, the text shall include a translation into one of these languages.[books.google.com]
  • The ‎ Pagina 9 - given in the appendix to the Annex to the present convention. If the language used is neither English nor French, the text shall include a translation into one of these languages.[books.google.ro]
  • Acronym PMRED Keywords Disclaimer Any medical or genetic information present in this entry is provided for research, educational and informational purposes only.[uniprot.org]
Hemophilia A
  • Strauss, MD 6 1 The Community Health Clinic, Topeka, IN 2 New Leaf Center Clinic for Special Children, Mt Eaton, OH 3 La Farge Medical Clinic-Vernon Memorial Healthcare, La Farge, WI 4 The Indiana Hemophilia & Thrombosis Center, Indianapolis, IN 5 Windows[epostersonline.com]
Poor Feeding
  • Patients are hypotonic and have poor feeding in the neonatal period. MalaCards based summary : Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism, is also known as pmred.[malacards.org]
  • Patients are hypotonic and have poor feeding in the neonatal period. Acronym PMRED Keywords Disclaimer Any medical or genetic information present in this entry is provided for research, educational and informational purposes only.[uniprot.org]
  • Patients are hypotonic and have poor feeding in the neonatal period.[ghr.nlm.nih.gov]
  • Patients are hypotonic and have poor feeding in the neonatal period. {ECO:0000269 PubMed:22279524}. Note The disease is caused by mutations affecting the gene represented in this entry.[genecards.org]
Broad Thumb
  • thumb Short palm Tapered finger Myopia Anemia 3-Methylglutaconic aciduria Severe lactic acidosis Severe failure to thrive Hyperammonemia Visual loss Severe muscular hypotonia Spontaneous abortion Horizontal nystagmus Renal hypoplasia Bicuspid aortic[mendelian.co]
Moonshine
  • Download free mp3 music and songs, Play online Home The Pmred.mp3 The Pmred.mp3 The Lacs The Lacs"Red Eyes".mp3 Play Download Moonshine Bandits Moonshine BanditsRebel Red Hot ft The LACS (Official Video).mp3 Play Download Chris Tomlin Chris TomlinAt The[mp3-goyoutube.com]
Hunting
  • Google Scholar Hunt, H. F. : Some effects of drugs on classical (type S) conditioning. Ann. N.Y. Acad. Sci. 65 , 258–267 (1956). Google Scholar —, P. Jernberg and Brady J.[link.springer.com]
Aspiration
  • We encourage elective gastrostomy tube placement to support growth and limit pulmonary aspiration, as well as anticonvulsant medication to prevent seizure-induced apnea; these simple interventions can reduce hospitalizations, alleviate suffering, and[epostersonline.com]
  • […] neck Otosclerosis Narrow nose Patent ductus arteriosus Epiphyseal stippling Long fingers Broad hallux Ectopic kidney Overlapping toe Joint hyperflexibility 2-3 toe syndactyly Self-injurious behavior Dystonia Constipation Hoarse voice Cleft upper lip Aspiration[mendelian.co]
Red Eye
  • Download free mp3 music and songs, Play online Home The Pmred.mp3 The Pmred.mp3 The Lacs The Lacs"Red Eyes".mp3 Play Download Moonshine Bandits Moonshine BanditsRebel Red Hot ft The LACS (Official Video).mp3 Play Download Chris Tomlin Chris TomlinAt The[mp3-goyoutube.com]
Behavior Disorder
  • The neurological spectrum comprised various combinations of global developmental delay/intellectual disability, hypotonia, infantile-onset epilepsy, and behavior disorders.[epostersonline.com]
Lumpy Skull Surface
  • UniProtKB/Swiss-Prot : 76 Psychomotor retardation, epilepsy, and craniofacial dysmorphism: A disease characterized by severe psychomotor retardation, intractable seizures, dysmorphic features, and a lumpy skull surface.[malacards.org]
  • Format Definition A disease characterized by severe psychomotor retardation, intractable seizures, dysmorphic features, and a lumpy skull surface. Patients are hypotonic and have poor feeding in the neonatal period.[uniprot.org]
Lumpy Skull Surface
  • UniProtKB/Swiss-Prot : 76 Psychomotor retardation, epilepsy, and craniofacial dysmorphism: A disease characterized by severe psychomotor retardation, intractable seizures, dysmorphic features, and a lumpy skull surface.[malacards.org]
  • Format Definition A disease characterized by severe psychomotor retardation, intractable seizures, dysmorphic features, and a lumpy skull surface. Patients are hypotonic and have poor feeding in the neonatal period.[uniprot.org]
Bulbous Nose
  • […] forehead Joint laxity Thin upper lip vermilion Pectus carinatum Osteoporosis Arrhythmia Talipes equinovarus Osteopenia Triangular face Hypoplasia of the corpus callosum Microcephaly Wide mouth Depressivity Umbilical hernia Macroglossia Hyperkeratosis Bulbous[mendelian.co]
Red Nose
  • Pmred.mp3 The Lacs The Lacs"Red Eyes".mp3 Play Download Moonshine Bandits Moonshine BanditsRebel Red Hot ft The LACS (Official Video).mp3 Play Download Chris Tomlin Chris TomlinAt The Cross (Love Ran Red) (Lyrics and Chords).mp3 Play Download Rudolph The Red[mp3-goyoutube.com]
Hyporeflexia
  • […] hypoplasia Bicuspid aortic valve Oligohydramnios Aciduria Increased serum lactate Recurrent infections Recurrent respiratory infections Lactic acidosis Waddling gait Epiphora Psoriasiform dermatitis Scaling skin Osteolysis Areflexia Decreased body weight Hyporeflexia[mendelian.co]

Treatment

  • 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]
  • They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.[web.expasy.org]
  • Here, depletion of SNIP1 had a significant effect on Cyclin D1 mRNA degradation kinetics, with a rapid decline in postspliced message being seen within the first hours of actinomycin D treatment.[cancerres.aacrjournals.org]

Prognosis

  • Title: High expression of SNIP1 correlates with poor prognosis in non-small cell lung cancer and SNIP1 interferes with the recruitment of HDAC1 to RB in vitro.[ncbi.nlm.nih.gov]

Prevention

  • Management from the medical home is designed to prevent life-threatening complications and optimize psychomotor development.[epostersonline.com]
  • Syndecan-1 acts in synergy with tight junction through Stat3 signaling to maintain intestinal mucosal barrier and prevent bacterial translocation . Inflamm. Bowel Dis. 21 , 1894–1907 (2015). 25. Zindl, C.L. et al .[nature.com]
  • When overexpressed, SNIP1 inhibits transactivation by SMADs and the RelA(p65) nuclear factor-κB subunit, by preventing their interaction with p300 ( 5 ).[cancerres.aacrjournals.org]

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