Martsolf syndrome 1

Definition

This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.

Also known as cataract-intellectual disability-hypogonadism syndrome, cataract-mental retardation-hypogonadism — per MONDO

Also identified as

• DOID 0111586 per MONDO
• MESH C536028 per MONDO
• OMIM 212720 per MONDO
• Orphanet 1387 per MONDO
• SCTID 722380003 per MONDO
• UMLS C5542298 per MONDO