Clinical and molecular delineation of dysequilibrium syndrome type 2 and profound sensorineural hearing loss in an inbred Arab family

Am J Med Genet A. 2016 Feb;170A(2):540-543. doi: 10.1002/ajmg.a.37421. Epub 2015 Oct 5.

Authors

Makanko Komara¹, Anne John¹, Jehan Suleiman^{2

3}, Bassam R Ali¹, Lihadh Al-Gazali²

Affiliations

¹ Department of Pathology, College of Medicine and Heath Sciences, United Arab Emirates University, United Arab Emirates.
² Department of Pediatrics, College of Medicine and Heath Sciences, United Arab Emirates University, United Arab Emirates.
³ Department of Pediatrics, Tawam Hospital, Al-Ain, United Arab Emirates.

PMID: 26437881
DOI: 10.1002/ajmg.a.37421

No abstract available

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Arabs
Cerebellar Ataxia / genetics*
Cerebellar Ataxia / pathology
Child
Child, Preschool
Female
Hearing Loss, Sensorineural / genetics*
Hearing Loss, Sensorineural / pathology
Homozygote
Humans
Intellectual Disability / genetics*
Intellectual Disability / pathology
Male
Membrane Proteins / genetics*
Mutation / genetics*
Nerve Tissue Proteins / genetics*
Pedigree

Substances

LHFPL5 protein, human
Membrane Proteins
Nerve Tissue Proteins
WDR81 protein, human

Supplementary concepts

Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Dysequilibrium syndrome