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109 Possible Causes for All Reported Mutations Have Occurred De Novo, Posterior Rib Gap Defects

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  • Cerebro-Costo-Mandibular Syndrome

    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] Serial roentgenograms subsequently demonstrated a progressive diminution of the characteristic posterior rib-gap defects.[ncbi.nlm.nih.gov] Cerebro-costo-mandibular syndrome (CCMS) consists of severe micrognathia, glossoptosis, posterior rib-gap defects and developmental delay.[ncbi.nlm.nih.gov]

  • Lutembacher Syndrome

    Rib-Gap Defects MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1 MICROCEPHALY, SHORT STATURE, AND[rgd.mcw.edu] Prognathism Microcephaly, Retinitis Pigmentosa, and Sutural Cataract microcephaly, seizures, and developmental delay Microcephaly, Severe, with Skeletal Anomalies including Posterior[rgd.mcw.edu]

    Missing: All Reported Mutations Have Occurred De Novo
  • CANOMAD Syndrome

    Rib-Gap Defects MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1 MICROCEPHALY, SHORT STATURE, AND[rgd.mcw.edu] Prognathism Microcephaly, Retinitis Pigmentosa, and Sutural Cataract microcephaly, seizures, and developmental delay Microcephaly, Severe, with Skeletal Anomalies including Posterior[rgd.mcw.edu]

    Missing: All Reported Mutations Have Occurred De Novo
  • Wolcott-Rallison Syndrome

    New autosomal recessive syndrome of severe microcephaly and skeletal anomalies including posterior rib-gap defects.[link.springer.com]

    Missing: All Reported Mutations Have Occurred De Novo
  • Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome

    rib-gap defects New autosomal recessive syndrome of sparse hair, osteopenia, and mental retardation in Mennonite sisters New mental retardation syndrome with hearing impairment[documentslide.com] […] skin anomalies (MOMES Syndrome): A newly recognized autosomal recessive syndrome New autosomal recessive syndrome of severe microcephaly and skeletal anomalies including posterior[documentslide.com]

    Missing: All Reported Mutations Have Occurred De Novo
  • Hypopituitarism

    All of these mutations occurred de novo and included five nonsense, four frameshift, one deletion and two missense mutations.[web.archive.org] We have subsequently reported six patients harbouring de novo heterozygous mutations in SOX2, resulting in loss of function of the mutant protein, four of whom were previously[web.archive.org]

    Missing: Posterior Rib Gap Defects
  • Optic Atrophy

    Although almost all benign mutations were inherited, the majority of severe mutations occurred de novo.[ncbi.nlm.nih.gov] Of interest, de novo SCN2A mutations have also been reported in five patients without seizures but with ID (n 3) and/or autism (n 3).[ncbi.nlm.nih.gov]

    Missing: Posterior Rib Gap Defects
  • Dursun Syndrome

    Rib-Gap Defects MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1 MICROCEPHALY, SHORT STATURE, AND[rgd.mcw.edu] Prognathism Microcephaly, Retinitis Pigmentosa, and Sutural Cataract Microcephaly, Seizures, and Developmental Delay Microcephaly, Severe, with Skeletal Anomalies including Posterior[rgd.mcw.edu]

    Missing: All Reported Mutations Have Occurred De Novo
  • Shaheen Syndrome

    Rib-Gap Defects MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1 MICROCEPHALY, SHORT STATURE, AND[rgd.mcw.edu] Prognathism Microcephaly, Retinitis Pigmentosa, and Sutural Cataract Microcephaly, Seizures, and Developmental Delay Microcephaly, Severe, with Skeletal Anomalies including Posterior[rgd.mcw.edu]

    Missing: All Reported Mutations Have Occurred De Novo
  • NADH Cytochrome B5 Reductase Deficiency

    Posterior rib gaps and rib defects are revealed by X-ray; there is no apparent continuity between the ossified ribs which are usually divided into two portions.[findzebra.com] rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome (see this term) that include palatal defects (short hard palate, absent soft palate, absent uvula),[findzebra.com] Characteristic dorsal rib defects are sine qua non of the syndrome and often result in a bell-shaped thorax.[findzebra.com]

    Missing: All Reported Mutations Have Occurred De Novo

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