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13 Possible Causes for All Reported Mutations Have Occurred De Novo, Pediatric Disorder, Small Hand

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  • Helsmoortel-van der Aa Syndrome

    Curr Opin Pediatr 14(6):678-83, 2002. 57. Hay BN. Deletion 22q11: spectrum of associated disorders. Semin Pediatr Neurol 14(3):136-9, 2007. 58. Greenberg F.[siicsalud.com] hands and ears, and that has been seen in one family to date.[findzebra.com] disorders of various degrees was even slightly higher than the reported 27% achieved by WES [ 17 ].[journals.plos.org]

  • Cerebro-Costo-Mandibular Syndrome

    A new familial developmental disorder. Arch Dis Chil 45: 421 Google Scholar 4.[link.springer.com] reported mutations have occurred de novo; Facial dysmorphic features are variable MOLECULAR BASIS: Caused by mutation in the K(lysine) acetyltransferase 6A gene (KAT6A, 601408.0001[findzebra.com] If you google it, you will get my blog and a very small handful of other information on it.[designmom.com]

  • Geleophysic Dysplasia

    Diagnosis of this disorder is based on clinical and radiographic criteria. Until now only 60 cases have been reported in the literature.[bone-abstracts.org] The proposita's sister died of heart failure at 3 years and was reported by the mother to have been a tiny child with small hands.[ncbi.nlm.nih.gov] All reported mutations have occurred as new (sporadic or de novo ) mutations, which means that in these cases the gene mutation has occurred at the time of the formation of[rarediseases.org]

  • Hypopituitarism

    Bode HH: Disorders of posterior pituitary; in Kaplan SA (ed): Clinical Pediatric Endocrinology. Philadelphia, Saunders, 1990, pp 63–86.[dx.doi.org] This test uses a small amount of radiation to make images of tissues inside the body. An X-ray may be done of the left hand and wrist.[muschealth.staywellsolutionsonline.com] All of these mutations occurred de novo and included five nonsense, four frameshift, one deletion and two missense mutations.[web.archive.org]

  • Dystrophic Epidermolysis Bullosa

    It groups skin diseases and lesions with other disorders and with systemic diseases, drug-related diseases, malignancies, and special conditions (nutritional disorders, pregnancy[books.google.com] All cases with localised DDEB have not necessarily been documented or registered in DEB databases and therefore those mutation reports are limited.[medicaljournals.se] The proband's younger brother developed a small crop of pruritic papules on his elbows, dorsal hands, knees, and ankles at age 13.[ncbi.nlm.nih.gov]

  • Lissencephaly

    These can be classified into pediatric neurological diseases, hereditary diseases affecting sensory organs, mental disorders and late-onset neurodegenerative disorders.[blogs.biomedcentral.com] Babies born with lissencephaly may have an abnormally small head, a condition known as microlissencephaly. But not all babies with lissencephaly have this appearance.[healthline.com] So far, all mutations in TUBA1A have occurred de novo, resulting in isolated cases.[ncbi.nlm.nih.gov]

  • Anophthalmia - Microphthalmia Syndrome

    Strongly associated with chromosome abnormalities and single-gene disorders. Karyotype is indicated.[mhmedical.com] Microcephaly, short stature (although not in all cases), joint hypermobility, limbs anomalies (small hands and feet), palatal anomalies (highly arched palate, cleft palate[bredagenetics.com] All remaining reported cases of SOX2 mutations and deletions have occurred de novo.[molvis.org]

  • GOMBO Syndrome

    Kovács Recent advances in pediatric laboratory medicine. Guest Editor: Edgard Delvin Pediatric obesity and cardiometabolic disorders: risk factors and biomarkers. E.[infobioquimica.com] He had facial dysmorphism with small palpebral fissures, small round ears, a broad nasal bridge, short philtrum, small mouth, marked prognathism, and a short neck.[jmg.bmj.com] All reported mutations have occurred as new (sporadic or de novo ) mutations, which means that in these cases the gene mutation has occurred at the time of the formation of[rarediseases.org]

  • Anophthalmia or Microphthalmia - Esophageal Atresia Syndrome

    Related Journals: Journal of Congenital Anomalies; Journal of Congenital Heart Disease; Journal of Pediatrics and Congenital Disorders; The New England Journal of Medicine[imedpub.com] Microcephaly, short stature (although not in all cases), joint hypermobility, limbs anomalies (small hands and feet), palatal anomalies (highly arched palate, cleft palate[bredagenetics.com] All remaining reported cases of SOX2 mutations and deletions have occurred de novo.[molvis.org]

  • Cutaneous Mastocytosis - Short Stature - Conductive Hearing Loss - Microtia

    Familial juvenile nephronophtisis, Jeune’s syndrome, and associated disorders.[dergipark.ulakbim.gov.tr] Oligodontia Jaundice Abnormality of the nervous system Spina bifida occulta Narrow palate Polymicrogyria Aciduria Hooded eyelid Large fontanelles Cholestasis Small hand Hirsutism[mendelian.co] reported mutations have occurred de novo MOLECULAR BASIS: Caused by mutation in the nonselective sodium leak channel gene (NALCN, 611549.0004) Description The large number[findzebra.com]

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