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Results 1 - 10 of 10 for Body dysmorphic disorder
  1. STAC3 disorder 
    ... STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility. Hum Mutat. 2018 Dec;39(12):1980-1994. doi: 10.1002/humu.23635. Epub 2018 Oct 11. Citation on PubMed
    https://medlineplus.gov/genetics/condition/stac3-disorder - Genetics
  2. HIVEP2 gene 
    ... it. It may also be involved in other body processes; however these additional roles are not ... abnormalities (dysmorphic features), and weak muscle tone (hypotonia), among other ...
    https://medlineplus.gov/genetics/gene/hivep2 - Genetics
  3. Chromosome 13 
    ... of chromosome 13 in only some of the body's cells (mosaic trisomy 13).In some cases, ... C, Doz F. Dysmorphic phenotype and neurological impairment in 22 retinoblastoma patients ...
    https://medlineplus.gov/genetics/chromosome/13 - Genetics
  4. Retinoblastoma 
    ... gene mutations are present in all of the body's cells, including reproductive cells (sperm or ... Turleau C, Doz F. Dysmorphic phenotype and neurological impairment in 22 retinoblastoma patients ...
    https://medlineplus.gov/genetics/condition/retinoblastoma - Genetics
  5. Hereditary neuralgic amyotrophy 
    ... with other septin proteins in some of the body's tissues. This change in the functioning and ... PF, Rehder H. Dysmorphic syndrome of hereditary neuralgic amyotrophy associated with a ...
    https://medlineplus.gov/.../hereditary-neuralgic-amyotrophy - Genetics
  6. Malignant hyperthermia 
    ... activates processes that generate heat (leading to increased body temperature) and produce ... with distinctive dysmorphic features and malignant hyperthermia susceptibility. Hum Mutat. 2018 ...
    https://medlineplus.gov/genetics/condition/malignant-hyperthermia - Genetics
  7. STAC3 gene 
    ... leading to the muscle weakness characteristic of STAC3 disorder.It is unclear how these STAC3 ... dysmorphic features and malignant hyperthermia susceptibility. Hum Mutat. 2018 ...
    https://medlineplus.gov/genetics/gene/stac3 - Genetics
  8. Léri-Weill dyschondrosteosis 
    ... normal angling of the elbow away from the body (increased carrying angle); and a high arched ... gene defects and selected dysmorphic signs in patients of idiopathic short stature and ...
    https://medlineplus.gov/.../condition/leri-weill-dyschondrosteosis - Genetics
  9. SHOX gene 
    ... embryonic development to control the formation of many body structures. Specifically, ... gene defects and selected dysmorphic signs in patients of idiopathic short stature and ...
    https://medlineplus.gov/genetics/gene/shox - Genetics
  10. SEPTIN9 gene 
    ... identified in individuals with hereditary neuralgic amyotrophy, a disorder characterized ... Rehder H. Dysmorphic syndrome of hereditary neuralgic amyotrophy associated with a ...
    https://medlineplus.gov/genetics/gene/septin9 - Genetics