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5 Possible Causes for Mutation in the Thyroid Hormone Receptor Interactor 11 Gene, Slightly Less Ossified than Expected for Gestational Age

  • Achondrogenesis Type 1B

    Features include: severely hypoplastic skeleton the skull is mildly affected and is slightly less ossified than expected for gestational age, and the orbits may be extended[radiopaedia.org] In mice, a nonsense mutation in the thyroid hormone receptor interactor 11 gene (Trip11), which encodes the Golgi microtubule-associated protein 210 (GMAP-210), resulted in[en.wikipedia.org] […] laterally and superiorly clavicles are short or normal size the scapulae are small with irregular contour the ribs are slightly thinner and much shorter than normal with[radiopaedia.org]

  • Achondrogenesis

    In mice, a nonsense mutation in the thyroid hormone receptor interactor 11 gene (Trip11), which encodes the Golgi microtubule-associated protein 210 (GMAP-210), resulted in[en.wikipedia.org] A nonsense mutation in the thyroid hormone receptor interactor 11 gene (Trip11), which encodes the Golgi microtubule-associated protein 210 (GMAP-210), showed defects that[symptoma.com]

    Missing: Slightly Less Ossified than Expected for Gestational Age
  • Achondrogenesis, Type 1A

    In mice, a nonsense mutation in the thyroid hormone receptor interactor 11 gene (Trip11), which encodes the Golgi microtubule-associated protein 210 (GMAP-210), resulted in[dict.eudic.net]

    Missing: Slightly Less Ossified than Expected for Gestational Age
  • Atelosteogenesis Type 2

    In mice, a nonsense mutation in the thyroid hormone receptor interactor 11 gene (Trip11), which encodes the Golgi microtubule-associated protein 210 (GMAP-210), resulted in[drsherazi110.blogspot.com]

    Missing: Slightly Less Ossified than Expected for Gestational Age
  • Lethal Occipital Encephalocele - Skeletal Dysplasia Syndrome

    Achondrogenesis Type 1A is caused by mutations in the TRIP11 (thyroid hormone receptor interactor 11) gene, resulting in deficiency of the golgi microtubule associated protein[file.scirp.org] 210 [63] whereas achondrogenesis type 2 is caused by mutation in collagen type II gene (COL2A1).[file.scirp.org]

    Missing: Slightly Less Ossified than Expected for Gestational Age

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