congenital muscular dystrophy-infantile cataract-hypogonadism syndrome
Findings
No curated finding names congenital muscular dystrophy-infantile cataract-hypogonadism syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0009680), read 2026-09-29. CC BY 4.0.
Features
14 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormality of the ovaryHPOHP:0000137
- Very frequent (80% to 99% of cases)
- Decreased testicular sizeHPOHP:0008734
- Very frequent (80% to 99% of cases)
- Gait disturbanceHPOHP:0001288
- Very frequent (80% to 99% of cases)
- HypogonadismHPOHP:0000135
- Very frequent (80% to 99% of cases)
- HypotoniaHPOHP:0001252
- Very frequent (80% to 99% of cases)
- Mask-like faciesHPOHP:0000298
- Very frequent (80% to 99% of cases)
- Muscular dystrophy
Show the remaining 2
- StrabismusHPOHP:0000486
- Frequent (30% to 79% of cases)
- Wide intermamillary distanceHPOHP:0006610
- Frequent (30% to 79% of cases)
Where it sits
- A kind of
Other names
1 name
Resolves to: congenital muscular dystrophy-infantile cataract-hypogonadism syndrome
- Also called
- Bassoe syndrome