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Results 1 - 10 of 42 for Congenital dysplasia
  1. Alveolar capillary dysplasia with misalignment of pulmonary veins 
    ... identified. ACD ACD/MPV ACDMPV Alveolar capillary dysplasia Congenital alveolar capillary dysplasia Familial persistent pulmonary hypertension of the newborn Misalignment ...
    https://medlineplus.gov/...asia-with-misalignment-of-pulmonary-veins - Genetics
  2. Spondyloepiphyseal dysplasia congenita 
    ... disorder. SED congenita SED, congenital type SEDc Spondyloepiphyseal dysplasia, congenital type Genetic Testing Registry: Spondyloepiphyseal dysplasia congenita Spondyloepiphyseal ...
    https://medlineplus.gov/.../spondyloepiphyseal-dysplasia-congenita - Genetics
  3. COL2A1 gene 
    ... collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital) SEDC STL1 Tests of COL2A1 PubMed COLLAGEN, TYPE ...
    https://medlineplus.gov/genetics/gene/col2a1 - Genetics
  4. CHST3-related skeletal dysplasia 
    ... CHST3 type SED, Omani type Spondyloepiphyseal dysplasia with congenital joint dislocations Spondyloepiphyseal dysplasia, Omani type Genetic Testing Registry: Larsen-like syndrome, ...
    https://medlineplus.gov/.../chst3-related-skeletal-dysplasia - Genetics
  5. Leber congenital amaurosis 
    ... Amaurosis, Leber congenital Congenital amaurosis of retinal origin Congenital retinal blindness CRB Dysgenesis neuroepithelialis retinae Hereditary epithelial dysplasia of retina Hereditary retinal aplasia Heredoretinopathia congenitalis LCA ...
    https://medlineplus.gov/.../condition/leber-congenital-amaurosis - Genetics
  6. Grange syndrome 
    ... of progressive arterial occlusive disease consistent with fibromuscular dysplasia, hypertension, congenital cardiac defects, bone fragility, brachysyndactyly, and learning disabilities. ...
    https://medlineplus.gov/genetics/condition/grange-syndrome - Genetics
  7. ZMPSTE24 gene 
    ... A, Levy N, Bonne G. Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation. Eur ...
    https://medlineplus.gov/genetics/gene/zmpste24 - Genetics
  8. Fukuyama congenital muscular dystrophy 
    Fukuyama congenital muscular dystrophy is an inherited condition that predominantly affects the muscles, brain, and eyes. Congenital muscular dystrophies are ...
    https://medlineplus.gov/.../fukuyama-congenital-muscular-dystrophy - Genetics
  9. Nonsyndromic congenital nail disorder 10 
    ... Organization for Rare Disorders (NORD) NAIL DISORDER, NONSYNDROMIC ... G, Klar J, Dahl N. Mutations in Frizzled 6 cause isolated autosomal-recessive nail dysplasia. Am J Hum Genet. 2011 Jun 10;88( ...
    https://medlineplus.gov/.../nonsyndromic-congenital-nail-disorder-10 - Genetics
  10. Septo-optic dysplasia 
    ... Beddington RS. Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia. Hum Mol Genet. 2001 Jan 1;10(1): ...
    https://medlineplus.gov/genetics/condition/septo-optic-dysplasia - Genetics
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