Condition: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5
rs104894684
in
FKRP
gene and
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5
PMID 15121789
2004 Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome.