Expansion of the neurodevelopmental phenotypic spectrum of CKAP2L-related Filippi syndrome to include an adolescent male with normal intellect

Am J Med Genet A. 2022 Jun;188(6):1928-1929. doi: 10.1002/ajmg.a.62702. Epub 2022 Feb 28.

Authors

Xiao-Ru Yang¹, Ashish Marwaha^{1

2}

Affiliations

¹ Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.
² Department of Pediatrics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.

PMID: 35224850
DOI: 10.1002/ajmg.a.62702

No abstract available

Publication types

Letter

MeSH terms

Adolescent
Facies
Growth Disorders
Humans
Intellectual Disability* / diagnosis
Intellectual Disability* / genetics
Male
Microcephaly* / diagnosis
Microcephaly* / genetics
Neurodevelopmental Disorders*
Syndactyly*

Supplementary concepts

Filippi syndrome