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 20 for Perry syndrome
  1. Perry syndrome 
    Perry syndrome is a progressive brain disease that is characterized by four major features: a pattern of movement ...
    https://medlineplus.gov/genetics/condition/perry-syndrome - Genetics
  2. DCTN1 gene 
    ... the DCTN1 gene have been found to cause Perry syndrome. This progressive brain disease is characterized by a ... breathing (hypoventilation).Most of the mutations that cause Perry syndrome change single protein building blocks (amino acids) in ...
    https://medlineplus.gov/genetics/gene/dctn1 - Genetics
  3. Myhre syndrome 
    ... Delaney JW, Yetman AT, Hammel JM, Sanmann JN, Perry DA, Schaefer GB, Olney AH. Myhre syndrome: Clinical features and restrictive cardiopulmonary complications. Am J ...
    https://medlineplus.gov/genetics/condition/myhre-syndrome - Genetics
  4. Proximal 18q deletion syndrome 
    ... Li J, Lancaster J, Fox PT, Stratton RF, Perry B, Hale DE. Recurrent interstitial deletions of proximal 18q: a new syndrome involving expressive speech delay. Am J Med Genet ...
    https://medlineplus.gov/.../condition/proximal-18q-deletion-syndrome - Genetics
  5. MT-TL1 gene 
    ... RNA, MITOCHONDRIAL, LEUCINE, 1; MTTL1 SUDDEN INFANT DEATH SYNDROME NCBI Gene ClinVar Betts J, Jaros E, Perry RH, Schaefer AM, Taylor RW, Abdel-All Z, ...
    https://medlineplus.gov/genetics/gene/mt-tl1 - Genetics
  6. Trichohepatoenteric syndrome 
    ... J, Marinier E, Martinez-Vinson C, Peretti N, Perry A, Roquelaure B, Venaille A, Sarles J, Goulet O, Badens C. Syndromic (phenotypic) diarrhoea of infancy/tricho-hepato-enteric syndrome. Arch Dis Child. 2014 Jan;99(1):35- ...
    https://medlineplus.gov/.../condition/trichohepatoenteric-syndrome - Genetics
  7. RPS14 gene 
    ... Central Pellagatti A, Hellstrom-Lindberg E, Giagounidis A, Perry J, Malcovati L, Della Porta MG, Jadersten M, Killick S, Fidler C, Cazzola M, Wainscoat JS, Boultwood J. Haploinsufficiency of RPS14 in 5q- syndrome is associated with deregulation of ribosomal- and translation- ...
    https://medlineplus.gov/genetics/gene/rps14 - Genetics
  8. ORC4 gene 
    ... Jiang H, Evans S, Macgillivray C, Nightingale M, Perry S, Ferguson M, LeBlanc ... gene ORC4 cause Meier-Gorlin syndrome. Nat Genet. 2011 Feb 27;43(4):360- ...
    https://medlineplus.gov/genetics/gene/orc4 - Genetics
  9. Meier-Gorlin syndrome 
    ... Jiang H, Evans S, Macgillivray C, Nightingale M, Perry S, Ferguson M, LeBlanc ... gene ORC4 cause Meier-Gorlin syndrome. Nat Genet. 2011 Feb 27;43(4):360- ...
    https://medlineplus.gov/genetics/condition/meier-gorlin-syndrome - Genetics
  10. Distal 18q deletion syndrome 
    ... Organization for Rare Disorders (NORD) CHROMOSOME 18q DELETION SYNDROME PubMed Cody JD, Sebold C, Heard P, Carter E, Soileau B, Hasi-Zogaj M, Hill A, Rupert D, Perry B, O'Donnell L, Gelfond J, Lancaster J, ...
    https://medlineplus.gov/.../condition/distal-18q-deletion-syndrome - Genetics
previous · 1 · 2 · next