U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Atelis syndrome 1

Atelis syndrome 1

Synonyms
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 5; POOR GROWTH, MICROCEPHALY, DEVELOPMENTAL DELAY, AND ANEMIA

Summary

Atelis syndrome-1 (ATELS1) is an autosomal recessive neurodevelopmental disorder characterized by global developmental delay with learning difficulties and poor overall growth with short stature and microcephaly. Most patients have anemia, some have immunologic defects, and some have congenital heart septal defects. More variable features may include hypotonia, dysmorphic facial features, skin pigmentary anomalies, and mild skeletal defects. Patient cells show multiple chromosomal abnormalities due to impaired DNA replication and disrupted mitosis (Grange et al., 2022). See also ATELS2 (620185), caused by mutation in the SMC5 gene (609386) on chromosome 9q21. 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: ATELS1, C10orf6, FAM178A, SLF2
    Summary: SMC5-SMC6 complex localization factor 2

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.