congenital muscular dystrophy-infantile cataract-hypogonadism syndrome
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.
MONDO:0019950
congenital muscular dystrophy
is_a
Bassoe syndrome
exact
benign muscular dystrophy with hypergonadotrophic hypogonadism and congenital cataract
related
familial congenital muscular dystrophy with gonadal dysgenesis
related
muscular dystrophy, congenital, infantile with cataract and hypogonadism
related