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128 Possible Causes for Dull Facial Expression, Lack of Developmental Milestones, Mutation in the VPS53 Gene

  • Mental Retardation

    milestones.[www150.statcan.gc.ca] In infancy, abnormal development may be apparent by floppy or spastic muscle tone, lack of visual or auditory response, and/or inadequate sucking response. 123 Eventually,[www150.statcan.gc.ca] […] because it accounts for only 1% of all individuals with mental retardation. 7 Mental retardation is often suspected when the affected individual fails to meet age-appropriate developmental[www150.statcan.gc.ca]

    Missing: Mutation in the VPS53 Gene
  • Allergic Rhinitis

    Allergol Int. 2018 Jul;67(3):320-325. doi: 10.1016/j.alit.2018.04.011. Epub 2018 May 25. Author information 1 Department of Otorhinolaryngology, Head and Neck Surgery, University of Yamanashi, Yamanashi, Japan. Electronic address: mkeisuke@yamanashi.ac.jp. 2 Department of Otorhinolaryngology, Head and Neck Surgery,[…][ncbi.nlm.nih.gov]

    Missing: Lack of Developmental Milestones Mutation in the VPS53 Gene
  • Parkinson's Disease

    facial expression 0000338 Leg muscle stiffness 0008969 Lethargy 0001254 Myoclonus 0001336 Oculogyric crisis 0010553 Short attention span Poor attention span Problem paying[rarediseases.info.nih.gov] 0000183 Difficulty walking Difficulty in walking 0002355 Dyskinesia Disorder of involuntary muscle movements 0100660 Fatigue Tired Tiredness [ more ] 0012378 Hypomimic face Dull[rarediseases.info.nih.gov]

    Missing: Lack of Developmental Milestones Mutation in the VPS53 Gene
  • Dementia

    † Deceased. From University of Minnesota, Minneapolis, Minnesota; Brown University, Providence, Rhode Island; and Minneapolis VA Health Care System and HealthPartners, Minneapolis, Minnesota. Disclaimer: Findings and conclusions are those of the authors, who are responsible for the article's contents; findings and[…][doi.org]

    Missing: Lack of Developmental Milestones Mutation in the VPS53 Gene
  • Pontocerebellar Hypoplasia Type 2E

    The disease, which the researchers have called PCCA2 (Progressive Cerebello-Cerebral Atrophy Type 2), is caused by two mutations in the VPS53 gene.[sciencedaily.com] In the case of PCCA, the families that have it may have one of two mutations in one gene called SepSecS, or one mutation in an unrelated gene, called VPS53.[popsci.com] Gene Human Gene Mutation Database (HGMD) VPS53 SNPedia medical, phenotypic, and genealogical associations of SNPs for VPS53 SNP Genotyping and Copy Number Assay Products[genecards.org]

    Missing: Dull Facial Expression
  • Parkinson's Disease Type 3

    Parkinson's disease type 3 (PD3) is a form of Parkinson's disease that is inherited in an autosomal dominant manner. The underlying mutation has not yet been identified, but PD3 has been related to a 2.5 Mb-locus on the short arm of chromosome 2. To date, PD3 has been diagnosed in distinct families in Europe and[…][symptoma.com]

    Missing: Lack of Developmental Milestones Mutation in the VPS53 Gene
  • Myxedema

    The patient loses facial expression, and an appearance of imbecility is quickly observed.[henriettes-herb.com] He is stupid, inactive, dull of comprehension , is difficult to interest in the surroundings, or he takes an interest in very childish things.[henriettes-herb.com]

    Missing: Lack of Developmental Milestones Mutation in the VPS53 Gene
  • Juvenile Myxedema

    MORPHOLOGY OF THE PITUITARY 19 THE OPTIC CHIASM IN ENDOCRINOLOGIC 204 PARANEOPLASTIC ENDOCRINE 223 SEX HORMONES AND HUMAN 219 APPROACH TO THE PATIENT WITH 37 ADVERSE EFFECTS OF IODIDE 360 MORPHOLOGY OF THE THYROID 38 NONTOXIC GOITER 366 SYNTHESIS AND 39 THE THYROID NODULE 374 HORMONE ERNEST L MAZZAFERRI 402[…][books.google.com]

    Missing: Lack of Developmental Milestones Mutation in the VPS53 Gene
  • Down Syndrome

    Down syndrome (DS)-associated transient abnormal myelopoiesis (TAM) or acute megakaryoblastic leukemia (AMKL) in monozygotic twins is exceedingly rare and has not been well characterized. We describe a unique case of monozygotic twins with simultaneous TAM from a triplet pregnancy at 34 weeks' gestation.[…][ncbi.nlm.nih.gov]

    Missing: Lack of Developmental Milestones Mutation in the VPS53 Gene
  • Myotonic Dystrophy

    Myotonic dystrophy is a kind of multisystem disease, which is inherited in nature. It is a chronic disease condition that gradually progresses, causing muscle wasting, myotonia, heart defects and development of cataracts. Myotonic dystrophy significantly affects multiple organs and systems involving the skeletal[…][symptoma.com]

    Missing: Lack of Developmental Milestones Mutation in the VPS53 Gene