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Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome
rareCongenital 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.
- Identifiers
- MONDO:0009680 OMIM:254000Orphanet:1875
- Part of
- Congenital muscular dystrophy
- Also known as
- Bassoe syndrome · benign muscular dystrophy with hypergonadotrophic hypogonadism and congenital cataract · familial congenital muscular dystrophy with gonadal dysgenesis · muscular dystrophy, congenital, infantile with cataract and hypogonadism
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