Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 8 of 8 for Autosomal anomaly
  1. 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
  2. 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
  3. 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
  4. LBR gene 
    ... the LBR gene can also cause Pelger-Huët anomaly, a condition that affects the shape of the ... nuclei of granulocytes in people with Pelger-Huët anomaly have fewer segments than normal (they are hypolobulated). ...
    https://medlineplus.gov/genetics/gene/lbr - Genetics
  5. WNT4 gene 
    ... Health Condition MedlinePlus Genetics provides information about Congenital anomalies of kidney and urinary tract More About This ... as a major gene in Rokitansky-Kuster-Hauser anomaly. Am J Med Genet A. 2005 Aug 15; ...
    https://medlineplus.gov/genetics/gene/wnt4 - Genetics
  6. ELN gene 
    ... Schaefer GB, Collins RT 2nd. Cardiovascular and genitourinary anomalies in patients with duplications within the Williams syndrome ...
    https://medlineplus.gov/genetics/gene/eln - Genetics
  7. DNAJC19 gene 
    ... and noncompaction cardiomyopathy, anemia, ataxia, and male genital anomalies. Pediatr Res. 2012 Oct;72(4):432-7. ... D, Bernier F. Cardiac features of a novel autosomal recessive dilated cardiomyopathic syndrome due to defective importation ...
    https://medlineplus.gov/genetics/gene/dnajc19 - Genetics
  8. WDR19 gene 
    ... NV, Roepman R, Arts HH. Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the ... ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome. ...
    https://medlineplus.gov/genetics/gene/wdr19 - Genetics