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Results 11 - 20 of 26 for Absent vertebra
  1. Craniofacial microsomia 
    ... ear (microtia or anotia), or a closed or absent ear canal; these ... the spine (vertebrae), abnormally shaped kidneys, and heart defects, may ...
    https://medlineplus.gov/genetics/condition/craniofacial-microsomia - Genetics
  2. Melnick-Needles syndrome 
    ... short stature, have an abnormal curvature of the spine (scoliosis), partial ... or absent bones.Characteristic facial features may include bulging eyes ...
    https://medlineplus.gov/genetics/condition/melnick-needles-syndrome - Genetics
  3. Genitopatellar syndrome 
    ... foot called a clubfoot. Bone abnormalities of the spine, ribs, collarbone ... underdeveloped or absent tissue connecting the left and right halves of ...
    https://medlineplus.gov/genetics/condition/genitopatellar-syndrome - Genetics
  4. X-linked infantile spinal muscular atrophy 
    ... and is characterized by severe muscle weakness and absent reflexes (areflexia). Affected children often have multiple joint ... unusually small chin (micrognathia), abnormal curvature of the spine (scoliosis or kyphosis), and undescended testes (cryptorchidism).Weakness ...
    https://medlineplus.gov/...-linked-infantile-spinal-muscular-atrophy - Genetics
  5. Marinesco-Sjögren syndrome 
    ... have skeletal abnormalities including short stature and a spine that curves to the ... Marinesco-Sjögren syndrome appears to be a rare ...
    https://medlineplus.gov/.../condition/marinesco-sjogren-syndrome - Genetics
  6. DYRK1A gene 
    ... enzyme that does not function properly. Impaired or absent DYRK1A enzyme function likely leads to abnormal regulation ... associated Dyrk1a truncation mutants impair neuronal dendritic and spine growth and interfere with postnatal cortical development. Mol ...
    https://medlineplus.gov/genetics/gene/dyrk1a - Genetics
  7. SHANK3 gene 
    ... contribute to the developmental delay, intellectual disability, and absent or severely delayed speech characteristic of people with ...
    https://medlineplus.gov/genetics/gene/shank3 - Genetics
  8. UNC80 deficiency 
    ... movements of the mouth. Speech is also generally absent, although in some cases individuals have limited communication ... include a short neck, abnormal curvature of the spine (scoliosis), permanently bent joints (contractures), and inward- and ...
    https://medlineplus.gov/genetics/condition/unc80-deficiency - Genetics
  9. ROR2 gene 
    ... the fourth and fifth digits, and malformed or absent fingernails and toenails. (The term "brachydactyly" is from ...
    https://medlineplus.gov/genetics/gene/ror2 - Genetics
  10. Psoriatic arthritis 
    ... arthritis, particularly when skin changes are minimal or absent. Nail changes and dactylitis are two features that ... in the joints between the vertebrae in the spine. Symptoms of this form of the disorder involve ...
    https://medlineplus.gov/genetics/condition/psoriatic-arthritis - Genetics
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