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Atelis syndrome 2

Synonyms
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 6; POOR GROWTH, MICROCEPHALY, DYSMORPHIC FACIES, AND CARDIAC DEFECTS

Summary

Atelis syndrome-2 (ATELS2) is an autosomal recessive disorder characterized by poor overall growth with microcephaly and short stature, dysmorphic facial features, and congenital cardiac defects. Additional more variable features may include hematologic abnormalities, variable ocular abnormalities, motor delay, and anxiety. Patient cells exhibit a unique chromosomal instability phenotype consisting of segmented and dicentric chromosomes with mosaic variegated hyperploidy (Grange et al., 2022). See also ATELS1 (620184), caused by mutation in the SLF2 gene (610348). For a discussion of genetic heterogeneity of MVA, see MVA1 (257300). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: ATELS2, SMC5L1, SMC5
    Summary: structural maintenance of chromosomes 5

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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