TELO2-related syndrome (You-Hoover-Fong syndrome): Description of 14 new affected individuals and review of the literature

Daniah Albokhari, Amanda Barone Pritchard, Adelyn Beil, Candace Muss, Caleb Bupp, Dorothy K. Grange, Geoffroy Delplancq, Jennifer Heeley, Melissa Zuteck, Michelle M. Morrow, Paul Kuentz, Timothy Blake Palculict, Julie E. Hoover-Fong

Research output: Contribution to journalArticlepeer-review

4 Scopus citations


You-Hoover-Fong syndrome (YHFS) is an autosomal recessive condition caused by pathogenic variants in the TELO2 gene. Affected individuals were reported to have global developmental delay, intellectual disability, microcephaly, dysmorphic facial features, ocular involvement including cortical visual impairment, strabismus, cataract and rotatory nystagmus, movement disorder, hypertonia and spasticity, balance disturbance and ataxia, and abnormal sleep pattern. Other features reported include poor growth, cleft palate, cardiac malformations, epilepsy, scoliosis, and hearing loss. To date, 12 individuals with YHFS have been reported in the literature. Here we describe 14 new individuals with YHFS from 10 families. Their clinical presentation provides additional support of the phenotype recognized previously and delineates the clinical spectrum associated with YHFS syndrome. In addition, we present a review of the literature including follow-up data on four previously reported individuals with YHFS.

Original languageEnglish
Pages (from-to)1261-1272
Number of pages12
JournalAmerican Journal of Medical Genetics, Part A
Issue number5
StatePublished - May 2023


  • TELO2
  • YHFS
  • You-Hoover-Fong syndrome
  • developmental delay
  • microcephaly
  • syndromic intellectual disabilities


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