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

• GARD:3406
• MESH:C536028
• OMIM:212720
• ORDO:1387
• SNOMEDCT_US_2023_03_01:722380003
• UMLS_CUI:C0796037

Ontology

Human Disease   ( DOID:0111586 )