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Seckel syndrome 1

Disease Summary
Associated Targets (3)
Tbio

2

Tchem

1


Mondo Description Any Seckel syndrome in which the cause of the disease is a mutation in the ATR 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:0008869:  Seckel syndrome 1
UMLS:C1837590: 
UMLS:CN033164: