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 - 10 of 17 for Autosomal dominant robin syndrome 1
  1. Weissenbacher-Zweymüller syndrome 
    ... Heterozygous otospondylomegaepiphyseal dysplasia Otospondylomegaepiphyseal dysplasia, autosomal dominant Pierre Robin syndrome with fetal ... syndrome: a distinct autosomal recessive skeletal dysplasia. Am J Med Genet. 1992 Aug 1;43(6):989-95. doi: 10.1002/ajmg. ...
    https://medlineplus.gov/.../weissenbacher-zweymuller-syndrome - Genetics
  2. Opitz G/BBB syndrome 
    ... antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome. J Med Genet. 2015 Feb;52(2):104- ...
    https://medlineplus.gov/genetics/condition/opitz-g-bbb-syndrome - Genetics
  3. Stickler syndrome 
    ... ophthalmopathy Stickler dysplasia ... Stickler syndrome type 1 Genetic Testing Registry: Stickler syndrome type 2 Genetic ...
    https://medlineplus.gov/genetics/condition/stickler-syndrome - Genetics
  4. 22q11.2 deletion syndrome 
    ... cardio-facial syndrome Velocardiofacial syndrome Genetic Testing ... PubMed ...
    https://medlineplus.gov/genetics/condition/22q112-deletion-syndrome - Genetics
  5. TREX1 gene 
    ... been found in people with a disorder called autosomal dominant retinal ... exonuclease 1 enzyme may cause immune system dysfunction that damages ...
    https://medlineplus.gov/genetics/gene/trex1 - Genetics
  6. Isolated Pierre Robin sequence 
    ... When the condition is inherited, it follows an autosomal dominant pattern, which means one copy of the DNA ... Genetic ...
    https://medlineplus.gov/.../condition/isolated-pierre-robin-sequence - Genetics
  7. Guide to Understanding Pfeiffer Syndrome (Children's Craniofacial Association) - PDF  
    Craniofacial Abnormalities/Specifics ... Craniofacial Abnormalities ... Children's Craniofacial Association ... PDF
    https://ccakids.org/.../uploads/2022/01/pfeiffer-guide_2018.pdf - External Health Links
  8. Pallister-Hall syndrome 
    ... Olney AH, Biesecker LG. GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome. Nat Genet. 1997 Mar;15(3):266-8. ...
    https://medlineplus.gov/genetics/condition/pallister-hall-syndrome - Genetics
  9. GLI3 gene 
    ... Olney AH, Biesecker LG. GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome. Nat Genet. 1997 Mar;15(3):266-8. ...
    https://medlineplus.gov/genetics/gene/gli3 - Genetics
  10. Alagille Syndrome From the National Institutes of Health (Genetic and Rare Diseases Information Center)  
    Congenital Heart Defects/Genetics ... Congenital Heart Defects ... Bile Duct Diseases/Genetics ... Bile Duct Diseases ... Genetic and Rare Diseases Information Center ... From ...
    https://rarediseases.info.nih.gov/diseases/804/alagille-syndrome - External Health Links
previous · 1 · 2 · next