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Results 1 - 5 of 5 for Ochoa syndrome
  1. Ochoa syndrome 
    Ochoa syndrome is a disorder characterized by urinary problems and unusual facial expressions.The urinary problems associated with Ochoa syndrome typically ...
    https://medlineplus.gov/genetics/condition/ochoa-syndrome - Genetics
  2. HPSE2 gene 
    ... gene mutations have been identified in people with Ochoa syndrome (also called urofacial syndrome), a disorder that causes ... between HPSE2 gene mutations and the features of Ochoa syndrome are unclear. Because the areas of the brain ...
    https://medlineplus.gov/genetics/gene/hpse2 - Genetics
  3. LPIN2 gene 
    ... on PubMed Ferguson PJ, Chen S, Tayeh MK, Ochoa L, Leal SM, Pelet A, Munnich A, Lyonnet S, Majeed HA, El-Shanti H. Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic ...
    https://medlineplus.gov/genetics/gene/lpin2 - Genetics
  4. Majeed syndrome 
    ... on PubMed Ferguson PJ, Chen S, Tayeh MK, Ochoa L, Leal SM, Pelet A, Munnich A, Lyonnet S, Majeed HA, El-Shanti H. Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic ...
    https://medlineplus.gov/genetics/condition/majeed-syndrome - Genetics
  5. Juvenile myoclonic epilepsy 
    ... history of the disorder. ... Bai D, Ganesh S, Sugimoto Y, Inazawa J, Bailey JN, Ochoa A, Jara-Prado A, Rasmussen A, Ramos-Peek ...
    https://medlineplus.gov/.../condition/juvenile-myoclonic-epilepsy - Genetics