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Results 1 - 10 of 67 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. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. Peters anomaly 
    ... same family.Whether sporadic or inherited, when Peters anomaly is caused by mutations in the CYP1B1 gene, it follows an autosomal recessive pattern of inheritance. Autosomal recessive inheritance means ...
    https://medlineplus.gov/genetics/condition/peters-anomaly - Genetics
  9. Critical congenital heart disease 
    ... defects, multiple types, 6 Genetic Testing Registry: Ebstein anomaly Genetic Testing Registry: Hypoplastic left heart syndrome Genetic Testing Registry: Heterotaxy, visceral, 2, autosomal Genetic Testing Registry: Hypoplastic left heart syndrome 2 ...
    https://medlineplus.gov/.../critical-congenital-heart-disease - Genetics
  10. Axenfeld-Rieger syndrome 
    ... FOXC1 PITX2 This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. ARS Axenfeld and Rieger anomaly Axenfeld anomaly Axenfeld syndrome AXRA AXRS Rieger anomaly ...
    https://medlineplus.gov/genetics/condition/axenfeld-rieger-syndrome - Genetics
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