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3M syndrome 2

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any 3-M syndrome in which the cause of the disease is a mutation in the OBSL1 gene.
Uniprot Description An autosomal recessive disorder characterized by severe pre- and postnatal growth retardation, facial dysmorphism, large head circumference, and normal intelligence and endocrine function. Skeletal changes include long slender tubular bones and tall vertebral bodies.
Mondo Term and Equivalent IDs
MONDO:0013039:  3M syndrome 2
MESH:C567862: 
UMLS:C2752041: