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Seckel syndrome 9

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any Seckel syndrome in which the cause of the disease is a mutation in the TRAIP gene.
Uniprot Description A form of Seckel syndrome, a rare autosomal recessive disorder characterized by proportionate dwarfism of prenatal onset associated with low birth weight, growth retardation, severe microcephaly with a bird-headed like appearance, and mental retardation.
Mondo Term and Equivalent IDs
MONDO:0014767:  Seckel syndrome 9
UMLS:C4225212: