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737 Possible Causes for Primary Microcephaly

  • Microcephaly

    Intriguingly, Kif14 knockout mice also showed primary microcephaly.[ncbi.nlm.nih.gov] Our results highlight the importance of cytokinesis in the pathology of primary microcephaly.[ncbi.nlm.nih.gov] In the present clinical genetic study, we have present two consanguineous Pakistani families segregating primary microcephaly and intellectual disability.[ncbi.nlm.nih.gov]

  • Microcephalic Primordial Dwarfism due to ZNF335 Deficiency

    For a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (251200).[ncbi.nlm.nih.gov] Disease Type of connection Autosomal recessive primary microcephaly Dedifferentiated liposarcoma Familial melanoma Well-differentiated liposarcoma Methylmalonic acidemia with[csbg.cnb.csic.es] What Next-generation Sequencing (NGS) Technology Has Enabled Us To Learn About Primary Autosomal Recessive Microcephaly (MCPH) نويسندگان: [ Deborah J.[scipers.com]

  • Metabolic Syndrome

    , primary gonadal failure, and early-onset metabolic syndrome in late adolescence.[ncbi.nlm.nih.gov] […] adult siblings (male patient [P1] and female patient 2 [P2]) presented with a history of severe postnatal growth failure (adult heights: P1, -6.8 SD score; P2, -4 SD score), microcephaly[ncbi.nlm.nih.gov]

  • Seckel Syndrome

    Primary microcephaly represents an example of clinically and genetically heterogeneous condition.[ncbi.nlm.nih.gov] Interestingly, individuals with primary microcephaly and Seckel syndrome do not display an increased risk of malignancy.[preventiongenetics.com] What primary microcephaly can tell us about brain growth.[ncbi.nlm.nih.gov]

  • Polyarthritis

    We report on pediatric patient with Nijmegen breakage syndrome (NBS), a rare DNA repair disorder characterized by microcephaly, immunodeficiency and predisposition to malignant[ncbi.nlm.nih.gov] 12 September 2013 Published: 17 September 2013 Abstract We report on pediatric patient with Nijmegen breakage syndrome (NBS), a rare DNA repair disorder characterized by microcephaly[ijponline.biomedcentral.com] In patients with primary immunodeficiencies (PID), septic arthritis due to pyogenic bacteria or mycoplasmal arthritis are the most common osteoarticular manifestations.[ncbi.nlm.nih.gov]

  • Familial Hypercholesterolemia

    Microcephaly 2 2 Primary Autosomal Recessive Microcephaly 3 2 Primary Autosomal Recessive Microcephaly 4 1 Primary Autosomal Recessive Microcephaly 5 2 Primary Autosomal[preventiongenetics.com] Recessive Microcephaly 6 2 Primary Autosomal Recessive Microcephaly 7 2 Primary Autosomal Recessive Microcephaly 8 1 Primary Autosomal Recessive Microcephaly 9 2 Primary Erythromelalgia[preventiongenetics.com] Aldosteronism, Seizures, and Neurologic Abnormalities 2 Primary Autosomal Recessive Microcephaly 1 2 Primary Autosomal Recessive Microcephaly 17 1 Primary Autosomal Recessive[preventiongenetics.com]

  • Amish Lethal Microcephaly

    microcephaly.[genome.jp] microcephaly Autosomal recessive primary microcephaly (often shortened to MCPH, which stands for "microcephaly primary hereditary") is a condition in which infants are born[icdlist.com] Autosomal recessive primary microcephaly (often shortened to MCPH, which stands for "microcephaly primary hereditary") is a condition in which infants are born with a very[medicbind.com]

  • X-linked Parkinsonism-Spasticity Syndrome

    Primary Microcephaly MCPH1, ASPM, CDK5RAP2, CENPJ, STIL P370-BRAF-IDH1-IDH2 (basic research) Gliomas BRAF, IDH1, IDH2, FGFR1, MYB, MYBL1, CDKN2A P388-AGS Aicardi-Goutieres[gen-diagnostics.com] 16p13.3 P339-SHANK3 Autism Spectrum Disorder SHANK3 22q13.33 P343-Autism-1 Autism 15q11-13: UBE3A, GABRB3; 16p11; SHANK3 22q13 P348-ATP1A2-CACNA1A Migraine 1q23, 19p13 P355-Microcephaly[gen-diagnostics.com]

  • Autosomal Recessive Primary Microcephaly 12

    1 Autosomal recessive primary microcephaly due to ASPM mutations: An update. ( 29243349 ) LActard P....Passemard S. 2018 2 Autosomal Recessive Primary Microcephaly (MCPH):[malacards.org] […] of autosomal recessive primary microcephaly in four families.[paperity.org] G., 2009, The molecular landscape of ASPM mutations in primary microcephaly., J. Med.[article.sapub.org]

  • Dilated Cardiomyopathy Type 2B

    […] with pontine and cerebellar hypoplasia Microcephaly Microcephaly 1 primary autosomal recessive Microcephaly 5 primary autosomal recessive Microcephaly 6 primary autosomal[agdx.portal.cartagenia.com] Microcephaly 2 2 Primary Autosomal Recessive Microcephaly 3 2 Primary Autosomal Recessive Microcephaly 4 1 Primary Autosomal Recessive Microcephaly 5 2 Primary Autosomal[preventiongenetics.com] Microcephaly 8, primary, autosomal recessive 614673 611423 Autosomal recessive CEP152 15q21.1 Microcephaly 9, primary, autosomal recessive 614852 613529 Autosomal recessive[mnglabs.com]

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