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303 Possible Causes for Mutation in the Thyroid Hormone Receptor Interactor 11 Gene, Small Scapula

  • 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]

  • Acrorenal Mandibular Syndrome

    , and large calvarium with disproportionately small face.[sonoworld.com] , autosomal recessive syndrome with a birth prevalence of 1 in 200 000 is characterized by shortening and bowing of the long bones of the legs, narrow chest, hypoplastic scapulae[sonoworld.com]

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

    Small shoulder blade 0000882 Hypoplastic vertebral bodies Underdeveloped back bones 0008479 Increased fibular diameter Wide calf bone 0012107 Lateral clavicle hook Hook-shaped[rarediseases.info.nih.gov] […] short stature Short limb dwarfism, disproportionate Short-limbed dwarfism [ more ] 0008873 Fibular hypoplasia Short calf bone 0003038 Hypoplastic ilia 0000946 Hypoplastic scapulae[rarediseases.info.nih.gov]

    Missing: Mutation in the Thyroid Hormone Receptor Interactor 11 Gene
  • Ulnar Mammary Syndrome

    The ulnar-mammary syndrome (UMS) is an autosomal dominant disorder characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and/or dysfunction, abnormal dentition, delayed puberty in males, and genital anomalies. We present the clinical descriptions of 33 members of a six[…][ncbi.nlm.nih.gov]

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

    Hypoplastic scapulae (HP:0000882) Term ID: 882 Name: Hypoplastic scapulae Synonym: Hypoplastic scapula; Scapular hypoplasia; Short scapulae; Small scapula; Small scapulae;[mseqdr.org] Small shoulder blade 0000882 Macrocephaly Increased size of skull Large head Large head circumference [ more ] 0000256 Mesomelic leg shortening 0004987 Short femur Short[rarediseases.info.nih.gov] Imaging Aplasia of the scapula alae, hypoplasia of iliac bone, humeroradial synosthosis, dislocation of femoral heads, moderate brachydactyly Molecular pathology Defects of[newmedicalterms.com]

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

    A second girl with the unique combination of auditory canal atresia and scapulohumeral synostosis is reported. This patient also had bilateral clubfeet and genital abnormalities. The other patient reported with this syndrome and the presently reported child both had consanguineous parents. Mental development was[…][ncbi.nlm.nih.gov]

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

    […] are small with irregular contour the ribs are slightly thinner and much shorter than normal with cupping of distal ends the iliac bones are smaller than usual and only their[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] Only mildly abnormal clavicles (somewhat shortened but normally shaped and ossified) and scapulae (small with irregular contours) [ Superti-Furga 1996 ] Testing Histopathologic[ncbi.nlm.nih.gov]

  • 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: Small Scapula
  • Atelosteogenesis Type 2

    The ribs were slightly short and wide anteriorly, and the scapulae were normally formed.[documents.tips] 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] The pelvis was remark- able for rounding of the iliac bones with small sacro- sciatic notches. The acetabulae were flat and the ischial and pubic bones were well-formed.[documents.tips]

  • Sprengel Deformity

    One of the most important associated anomalies is Sprengels deformity (congenital elevated small scapula).[erj.ersjournals.com] Mathew Tung - Spinal Specialist Neurosurgeon Featured on Channel NewsAsia Basics Description Sprengel deformity: Congenital elevation of the scapula Small scapula with restricted[orthopaedicclinic.com.sg] Thank You -Andy 6 Responses Hi, Sprengel deformity consists of Congenital elevation of the scapula with small scapula with restricted range of motion with other congenital[medhelp.org]

    Missing: Mutation in the Thyroid Hormone Receptor Interactor 11 Gene

Further symptoms