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FG syndrome 1

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any FG syndrome in which the cause of the disease is a mutation in the MED12 gene.
Uniprot Description X-linked disorder characterized by mental retardation, relative macrocephaly, hypotonia and constipation.
Mondo Term and Equivalent IDs
MONDO:0010590:  FG syndrome 1
Orphanet:93932: