/congenital muscular dystrophy-infantile cataract-hypogonadism syndrome

congenital muscular dystrophy-infantile cataract-hypogonadism syndrome

Rare Disease

MONDO:0009680

Also Known As

Bassoe syndromebenign muscular dystrophy with hypergonadotrophic hypogonadism and congenital cataractfamilial congenital muscular dystrophy with gonadal dysgenesismuscular dystrophy, congenital, infantile with cataract and hypogonadismmuscular dystrophy, congenital, with infantile cataract and hypogonadism

Definition

Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome is characterized by congenital muscular dystrophy, infantile cataract and hypogonadism. It has been described in seven individuals from an isolated Norwegian village and in one unrelated individual. Transmission appears to be autosomal recessive.