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Seckel syndrome 4

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any Seckel syndrome in which the cause of the disease is a mutation in the CENPJ 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.
Disease Ontology Description A Seckel syndrome that has_material_basis_in homozygous mutation in the CENPJ gene on chromosome 13q12.
Mondo Term and Equivalent IDs
MONDO:0013358:  Seckel syndrome 4
UMLS:C3888212: