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Martsolf syndrome
Summary
- Synonym
-
- cataract-intellectual disability-hypogonadism syndrome
- Definition
- A syndrome characterized by intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the RAB3GAP2 gene on chromosome 1q41.
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:0111586
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
