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Results 1 - 10 of 75 for Autosomal anomaly
  1. Fryns syndrome 
    ... KL, Saal HM, Stern HJ. Fryns syndrome: an autosomal recessive disorder associated with craniofacial anomalies, diaphragmatic hernia, and distal digital hypoplasia. Pediatrics. 1990 ...
    https://medlineplus.gov/genetics/condition/fryns-syndrome - Genetics
  2. Spondylocarpotarsal synostosis syndrome 
    ... Loss-of-Function Mutation in Dimerization Domain Causes Autosomal-Recessive Spondylocarpotarsal Synostosis Syndrome with Rib Anomalies. Hum Mutat. 2017 May;38(5):540-547. ...
    https://medlineplus.gov/.../spondylocarpotarsal-synostosis-syndrome - Genetics
  3. FLNB gene 
    ... Loss-of-Function Mutation in Dimerization Domain Causes Autosomal-Recessive Spondylocarpotarsal Synostosis Syndrome with Rib Anomalies. Hum Mutat. 2017 May;38(5):540-547. ...
    https://medlineplus.gov/genetics/gene/flnb - Genetics
  4. 22q11.2 deletion syndrome 
    ... members may be affected as well. 22q11.2DS Autosomal dominant Opitz G/BBB syndrome CATCH22 Cayler cardiofacial syndrome Conotruncal anomaly face syndrome (CTAF) Deletion 22q11.2 syndrome DiGeorge ...
    https://medlineplus.gov/genetics/condition/22q112-deletion-syndrome - Genetics
  5. ADNP syndrome 
    ... Helsmoortel-van der Aa syndrome HVDAS Mental retardation, autosomal dominant 28 MRD28 Genetic Testing Registry: ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder ADNP syndrome National ...
    https://medlineplus.gov/genetics/condition/adnp-syndrome - Genetics
  6. Isolated Duane retraction syndrome 
    ... caused by CHN1 gene variants, it has an autosomal dominant inheritance pattern. Co-contractive retraction syndrome Duane anomaly, isolated Duane retraction syndrome Duane syndrome Duane's ...
    https://medlineplus.gov/.../isolated-duane-retraction-syndrome - Genetics
  7. Adams-Oliver syndrome 
    ... M. DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies. Hum Mutat. 2015 Jun;36(6):593-8. ...
    https://medlineplus.gov/genetics/condition/adams-oliver-syndrome - Genetics
  8. Autosomal dominant vitreoretinochoroidopathy 
    ... McAlister C, Vandenhoven C, Heon E. BEST1-related autosomal dominant vitreoretinochoroidopathy: a degenerative disease with a range of developmental ocular anomalies. Eye (Lond). 2011 Jan;25(1):113-8. ...
    https://medlineplus.gov/...osomal-dominant-vitreoretinochoroidopathy - Genetics
  9. NOG gene 
    ... Strouse PJ, Moroi SE, Milunsky JM, Lesperance MM. Autosomal dominant stapes ankylosis with broad thumbs and toes, hyperopia, and skeletal anomalies is caused by heterozygous nonsense and frameshift mutations ...
    https://medlineplus.gov/genetics/gene/nog - Genetics
  10. DOCK6 gene 
    ... M. DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies. Hum Mutat. 2015 Jun;36(6):593-8. ...
    https://medlineplus.gov/genetics/gene/dock6 - Genetics
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