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Human Disease

Martsolf syndrome

Term ID
DOID:0111586
Synonyms
  • 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. (3)
References
Ontology
Human Disease   ( DOID:0111586 )
Relationships
is a type of
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Genes Involved
Zebrafish Models