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 - 5 of 5 for Muscular "dystrophy-dystroglycanopathy" congenital with brain eye anomalies "," type "a," 11
  1. Walker-Warburg syndrome 
    ... BRAIN AND EYE ANOMALIES), TYPE A, 8; MDDGA8 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11; MDDGA11 PubMed Endo T. Glycobiology of alpha-dystroglycan ...
    https://medlineplus.gov/genetics/condition/walker-warburg-syndrome - Genetics
  2. FKRP gene 
    ... found in a small number of people with congenital muscular dystrophy type 1C (MDC1C), which causes muscle weakness, brain abnormalities, and intellectual disability but usually does not affect the eyes. Rarely, mutations in the FKRP gene are associated ...
    https://medlineplus.gov/genetics/gene/fkrp - Genetics
  3. LARGE1 gene 
    ... severe form of congenital muscular dystrophy known as congenital muscular dystrophy type 1D (MDC1D). This condition causes muscle weakness, brain abnormalities, and intellectual disability but does not affect the eyes. As in Walker-Warburg syndrome (described above), LARGE1 ...
    https://medlineplus.gov/genetics/gene/large1 - Genetics
  4. FKTN gene 
    ... dystrophy More About This Health Condition At ... including cobblestone lissencephaly. However, individuals with Walker-Warburg ...
    https://medlineplus.gov/genetics/gene/fktn - Genetics
  5. POMT1 gene 
    ... usually survive into childhood or adolescence. POMT1-related congenital muscular dystrophy causes muscle weakness, brain abnormalities, and intellectual disability, but usually does not affect the eyes.POMT1 gene mutations that cause these conditions result ...
    https://medlineplus.gov/genetics/gene/pomt1 - Genetics