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 837 for at
  1. Schinzel-Giedion syndrome 
    ... syndrome is a severe condition that is apparent at birth and affects many body systems. Signs and ... in people with Schinzel-Giedion syndrome. The bones at the base of the skull are often abnormally ...
    https://medlineplus.gov/genetics/condition/schinzel-giedion-syndrome - Genetics
  2. Norrie disease 
    ... disorder that leads to blindness in male infants at birth or soon after birth. It causes abnormal ... color, with masses of immature retinal cells accumulating at the back of the eye. As a result, ...
    https://medlineplus.gov/genetics/condition/norrie-disease - Genetics
  3. Erythrokeratodermia variabilis et progressiva 
    ... EKVP) is a skin disorder that is present at birth or becomes apparent in infancy. Although its ... is unclear how a shortage of connexin 43 at the cell surface affects the structure of gap ...
    https://medlineplus.gov/...hrokeratodermia-variabilis-et-progressiva - Genetics
  4. Multiple pterygium syndrome 
    ... before birth with webbing of the skin (pterygium) at the joints and a lack of muscle movement ( ... seen. Affected individuals may also have respiratory distress at birth due to underdeveloped lungs (lung hypoplasia). People ...
    https://medlineplus.gov/.../condition/multiple-pterygium-syndrome - Genetics
  5. Proopiomelanocortin deficiency 
    Proopiomelanocortin (POMC) deficiency causes severe obesity that begins at an early age. In addition to obesity, people ... skin.Affected infants are usually a normal weight at birth, but they are constantly hungry, which leads ...
    https://medlineplus.gov/.../condition/proopiomelanocortin-deficiency - Genetics
  6. Autosomal recessive congenital stationary night blindness 
    ... of the retina, which is the specialized tissue at the back of the eye that detects light ... may not be able to identify road signs at night or see stars in the night sky. ...
    https://medlineplus.gov/...ive-congenital-stationary-night-blindness - Genetics
  7. Blepharocheilodontic syndrome 
    ... BCD) syndrome is a disorder that is present at birth. It mainly affects the eyelids (blepharo-), upper ... is a rare disorder; its prevalence is unknown. At least 50 affected individuals have been described in ...
    https://medlineplus.gov/.../condition/blepharocheilodontic-syndrome - Genetics
  8. Bunion 
    ... bony bump on the side of the foot at the base of the big toe. Bunions develop slowly as pressure on the joint at the base of the big toe causes the ...
    https://medlineplus.gov/genetics/condition/bunion - Genetics
  9. Autosomal dominant congenital stationary night blindness 
    ... of the retina, which is the specialized tissue at the back of the eye that detects light ... they are not able to identify road signs at night and some people cannot see stars in ...
    https://medlineplus.gov/...ant-congenital-stationary-night-blindness - Genetics
  10. Adams-Oliver syndrome 
    ... syndrome is a rare condition that is present at birth. The primary features are an abnormality in ... of the modification on Notch signaling is unclear. At least three mutations in the EOGT gene have ...
    https://medlineplus.gov/genetics/condition/adams-oliver-syndrome - Genetics
previous · 1 · 2 · 3 · 4 · 5 · 6 · 7 · 8 · 9 · 10 · next