Create issue ticket

51 Possible Causes for Mutation in the Thyroid Hormone Receptor Interactor 11 Gene, Short Wide Clavicles

  • Achondrogenesis, Type 1A

    […] neck barrel-shaped chest short ribs fractured ribs beaded ribs short, wide clavicles hypoplastic scapulae protuberant abdomen poorly ossified skull unossified vertebral bodies[humpath.com] 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[enhancedwiki.territorioscuola.it] Macroscopical synopsis marked micromelic dwarfism hydrops polyhydramnios stillborn neonatal death large head short trunk flat nasal bridge short nose anteverted nares short[humpath.com]

  • 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: Short Wide Clavicles
  • Coxa Valga

    […] undermineralized metaphyses in older individuals, widened ribs and clavicles, and broadening of short tubular bones with increased transparency and thin cortices (summary[ncbi.nlm.nih.gov] […] radiologic features include thin bones in the superior part of calvaria with prominent wormian bones, diaphyseal widening of the long tubular bones in early childhood with wide[ncbi.nlm.nih.gov]

    Missing: Mutation in the Thyroid Hormone Receptor Interactor 11 Gene
  • Cleidocranial Dysplasia

    ; wide pubic symphysis; short middle phalanx of the fifth fingers; dental anomalies; short stature] [Inheritance: autosomal dominant][web.archive.org] CCD should be suspected in patients with persistence of the widely open anterior fontanels and sutures, short stature, and poor clavicles, calvarium, or teeth.[ncbi.nlm.nih.gov] The disease is characterized by a persistently open anterior fontanelle and skull sutures, hypoplastic or aplastic clavicles, dental abnormalities, short stature, a wide pubic[ncbi.nlm.nih.gov]

    Missing: Mutation in the Thyroid Hormone Receptor Interactor 11 Gene
  • Cloverleaf Skull Syndrome

    Pfeiffer syndrome Say-Poznanski syndrome (short wide clavicles; winged scapulae; rib anomalies with prominent costovertebral junctions; wide ischial separation; angulated[fetalultrasound.com]

    Missing: Mutation in the Thyroid Hormone Receptor Interactor 11 Gene
  • Gingival Fibromatosis-Progressive Deafness Syndrome

    Skeletal: The skull base is steep, short, and often sclerotic with wide occipital synchondrosis, and multiple wormian bones.[atlasgeneticsoncology.org] The ribs are broad and the clavicles are long. There is frequent hypoplasia of the first ribs, pubis, and distal phalanges.[atlasgeneticsoncology.org]

    Missing: Mutation in the Thyroid Hormone Receptor Interactor 11 Gene
  • Osteoglophonic Dwarfism

    Pfeiffer syndrome Say-Poznanski syndrome (short wide clavicles; winged scapulae; rib anomalies with prominent costovertebral junctions; wide ischial separation; angulated[fetalultrasound.com]

    Missing: Mutation in the Thyroid Hormone Receptor Interactor 11 Gene
  • Sprengel's Deformity

    Autosomal dominant syndrome in which there is delayed closing of the cranial fontanelles; complete or partial absence of the collarbones (clavicles); wide pubic symphysis;[icd10data.com] short middle phalanges of the fifth fingers; and dental and vertebral anomalies.[icd10data.com] […] in the bones and teeth, including the complete or partial absence of the clavicles, delayed closure of the fontanels, protruding mandible, hypertelorism, scoliosis, and short[icd10data.com]

    Missing: Mutation in the Thyroid Hormone Receptor Interactor 11 Gene
  • Achondrogenesis Type 1B

    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]

    Missing: Short Wide Clavicles
  • Congenital Pseudoarthrosis of Clavicle

    Autosomal dominant syndrome in which there is delayed closing of the cranial fontanelles; complete or partial absence of the collarbones (clavicles); wide pubic symphysis;[icd10data.com] short middle phalanges of the fifth fingers; and dental and vertebral anomalies.[icd10data.com] […] in the bones and teeth, including the complete or partial absence of the clavicles, delayed closure of the fontanels, protruding mandible, hypertelorism, scoliosis, and short[icd10data.com]

    Missing: Mutation in the Thyroid Hormone Receptor Interactor 11 Gene

Further symptoms