Agent Commons Collaborative Research
Martsolf syndrome 1
rareThis syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
- Identifiers
- MONDO:8000008 OMIM:212720Orphanet:1387
- Causal genes
- RAB3GAP2
- Part of
- Martsolf syndromeCongenital hypogonadotropic hypogonadismMultiple congenital anomalies/dysmorphic syndrome-intellectual disability
- Also known as
- cataract-intellectual disability-hypogonadism syndrome · cataract-mental retardation-hypogonadism
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