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Results 1 - 9 of 9 for "Cataract," Autosomal Dominant Congenital 4
  1. Hyperferritinemia-cataract syndrome 
    ... formed. FTL ... syndrome HHCS Genetic Testing Registry: ...
    https://medlineplus.gov/.../hyperferritinemia-cataract-syndrome - Genetics
  2. Peters anomaly 
    ... PAX6, or PITX2 gene, the condition follows an autosomal dominant pattern of inheritance, which means one copy of the ... segment dysgenesis 4 Genetic Testing Registry: Anterior segment dysgenesis 6 Genetic ...
    https://medlineplus.gov/genetics/condition/peters-anomaly - Genetics
  3. Muscular Dystrophy From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Muscular Dystrophy/Start Here ... Muscular Dystrophy ... National Institute of Neurological Disorders and Stroke ... From the National Institutes of Health ... Muscular dystrophy ( ...
    https://www.ninds.nih.gov/.../disorders/muscular-dystrophy - External Health Links
  4. Isolated ectopia lentis 
    ... not show signs and symptoms of the condition. Congenital ectopia ... Isolated ectopia lentis National Organization for Rare Disorders ( ...
    https://medlineplus.gov/genetics/condition/isolated-ectopia-lentis - Genetics
  5. Nearsightedness 
    ... in a single gene, it can follow an autosomal dominant, autosomal recessive, or X-linked inheritance pattern. In autosomal dominant inheritance, one copy of an altered gene in ...
    https://medlineplus.gov/genetics/condition/nearsightedness - Genetics
  6. Myotonic dystrophy 
    ... adulthood. Affected individuals typically have mild myotonia and cataracts. Congenital myotonic dystrophy is often apparent at birth. Characteristic ... types of myotonic dystrophy are inherited in an autosomal dominant pattern, which means one copy of the altered ...
    https://medlineplus.gov/genetics/condition/myotonic-dystrophy - Genetics
  7. Aniridia 
    ... embryonic development. PAX6 Aniridia is inherited in an autosomal dominant pattern, which means one copy of the altered ... Genetic Testing Registry: Aniridia 1 Genetic Testing Registry: Congenital aniridia Isolated ... Chao LY, Huff V, Strong LC, Saunders GF. Mutation in the PAX6 gene in twenty patients with aniridia. Hum Mutat. 2000;15(4):332-9. doi: 10.1002/(SICI)1098-1004( ...
    https://medlineplus.gov/genetics/condition/aniridia - Genetics
  8. Diamond-Blackfan anemia 
    ... RPS7 TSR2 This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ... pure red cell aplasia DBA Erythrogenesis imperfecta Hypoplastic congenital anemia Inherited erythroblastopenia Pure hereditary red ... ANEMIA 2; DBA2 DIAMOND-BLACKFAN ANEMIA 4; DBA4 DIAMOND-BLACKFAN ANEMIA 5; DBA5 DIAMOND-BLACKFAN ...
    https://medlineplus.gov/genetics/condition/diamond-blackfan-anemia - Genetics
  9. CHOPS syndrome 
    ... syndrome. AFF4 CHOPS syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered ...
    https://medlineplus.gov/genetics/condition/chops-syndrome - Genetics