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767 Possible Causes for Coxa Valga, Hypertrichosis of Eyebrows, Mutation in the MLL Gene

  • Wiedemann-Steiner Syndrome

    Utilizing a whole-exome sequencing approach, the group identified de novo mutations in the mixed lineage leukemia ( MLL ) gene in five of six individuals with the syndrome[news-medical.net] Spastic tetraplegia Polyneuropathy Thick lower lip vermilion Lumbar hyperlordosis Neurodegeneration Progressive neurologic deterioration Dry skin Small for gestational age Coxa[mendelian.co] […] cubiti, facial dysmorphism (hypertelorism, long eyelashes, thick eyebrows, downslanted, vertically narrow, long palpebral fissures, wide nasal bridge, broad nasal tip, long[orpha.net]

  • Coffin-Lowry Syndrome

    […] color of hands, feet, or parts of face 0001063 Bifid sternum 0010309 Broad palm Broad hand Broad hands Wide palm [ more ] 0001169 Coarse hair Coarse hair texture 0002208 Coxa[rarediseases.info.nih.gov] valga 0002673 Cutis laxa Loose and inelastic skin 0000973 Cutis marmorata 0000965 Decreased body weight Decreased weight Low body weight Low weight Weight less than 3rd percentile[rarediseases.info.nih.gov]

    Missing: Mutation in the MLL Gene
  • Fucosidosis

    The epiphyseal centers not well developed, the pelvis is poorly formed with small femoral heads and coxa valga.[themedicalbiochemistrypage.org] valga 0002673 Dry skin 0000958 Elevated sweat chloride 0012236 Flexion contracture Flexed joint that cannot be straightened 0001371 Frontal bossing 0002007 Hernia 0100790[rarediseases.info.nih.gov] 0004630 Autosomal recessive inheritance 0000007 Barrel-shaped chest Barrel chest 0001552 Cerebral atrophy Degeneration of cerebrum 0002059 Cervical platyspondyly 0004558 Coxa[rarediseases.info.nih.gov]

    Missing: Mutation in the MLL Gene
  • Schwartz-Jampel Syndrome

    The syndrome also induces various skeletal irregularities, such as micrognathia, pectus carinatum, kyphosis, coxa valga, short femoral bones and a short neck.[symptoma.com] The child had a short neck, blepharophimosis, flattened face, hypertrichosis of the eyelids, prominent eyebrows, high arched palate, low set ears, micrognathia, short stature[advbiores.net] valga ; Coxa vara ; Decreased testicular size ; Delayed skeletal maturation ; Flat face ; Flexion contracture of toe ; Full cheeks ; Generalized hirsutism ; High pitched[mousephenotype.org]

    Missing: Mutation in the MLL Gene
  • Hypertrichotic Osteochondrodysplasia

    Coxa Valga [Vertically-oriented femoral neck] Coxa valga is a nonspecific defect occurring in a variety of unrelated disorders, both congenital or acquired.[rrnursingschool.biz] Clinical description Dysmorphic features include macrocephaly and a coarse facial appearance with thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted[orpha.net] Clinical examination showed a mentally alert, well-built girl with hypertrichosis, presenting with extremely bushy eyebrows with downy growth of hair on the cheeks, chin,[ijdr.in]

    Missing: Mutation in the MLL Gene
  • Coxa Vara

    Coxa valga is more common in women.[sharecare.com] Case contributed by Wikipedia Diagnosis not applicable Diagnosis not applicable From the case: Coxa vara and coxa valga: diagram Diagram Coxa vara and coxa valga measurements[radiopaedia.org] Definition/Description Coxa valga is defined as the femoral neck shaft angle being greater than 139 [1] Coxa vara is as a varus deformity of the femoral neck.[physio-pedia.com]

    Missing: Hypertrichosis of Eyebrows Mutation in the MLL Gene
  • Congenital Disorder of Glycosylation Type 2A
    Missing: Mutation in the MLL Gene
  • Coffin-Siris Syndrome
    Missing: Mutation in the MLL Gene
  • Mucopolysaccharidosis

    valga, genu valgum, waddling gait, and laxity of joints.[ncbi.nlm.nih.gov] Severe coxa valga was seen in 91% of the patients.[journals.lww.com] valga, and flaring of the lower ribs.[genedx.com]

    Missing: Hypertrichosis of Eyebrows Mutation in the MLL Gene
  • Coxa Valga

    valga enwiki Coxa valga eswiki Coxa valga fawiki برونخمیدگی لگن itwiki Coxa valga Wikibooks (0 entries) edit Wikinews (0 entries) edit Wikiquote (0 entries) edit Wikisource[wikidata.org] From Wikipedia, the free encyclopedia Jump to navigation Jump to search Coxa valga is a deformity of the hip where the angle formed between the head and neck of the femur[en.wikipedia.org] From Wikidata Jump to navigation Jump to search No description defined edit Language Label Description Also known as English Coxa valga No description defined Statements instance[wikidata.org]

    Missing: Hypertrichosis of Eyebrows Mutation in the MLL Gene

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