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Seckel syndrome 5

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any Seckel syndrome in which the cause of the disease is a mutation in the CEP152 gene.
Uniprot Description 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:0013443:  Seckel syndrome 5
UMLS:C3151187: