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Martsolf syndrome

Genetics: - autosomal recessive - associated with defects in RAB3GAP2 Clinical manifestations: - congenital cataracts, mental retardation, & hypogonadism

General

genetic syndrome (multisystem disorder)

Database Correlations

OMIM 212720

References

  1. UniProt :accession Q9H2M9
  2. OMIM :accession 212720