Natural history of SPTBN4-related neurodevelopmental disorder with hypotonia, neuropathy, and deafness
Our study defines the clinical phenotype of a cohort of NEDHND in detail including the evolution of patients' clinical features, compares them to previously reported cases, and utilizes the existing data on the disease to direct development of a better prevention plan by means of genetic and preimplantation counseling. Our study may help and enable future clinical trials focusing on NEDHND in our country.
Authors
- Mohammad A. Al–Muhaizea (ORCID: https://orcid.org/0000-0002-1050-3117)
- Rawan Almass
- Anoud Albader
- Hanan AlQudairy
- Mohamed Tohary
- Maissa Alfuraih
- Hamad Alzaidan
- Hadeel Jaber
- Eman Alobeid
- Albandary AlBakheet
- Moeenaldeen AlSayed (ORCID: https://orcid.org/0000-0003-1995-8465)
- Aljouhra AlHargan
- Tarfa Al‐Sheddi (ORCID: https://orcid.org/0000-0002-7825-8234)
- Maha Al‐Rasheed (ORCID: https://orcid.org/0000-0001-6668-2874)
- Ali Al‐Odaib (ORCID: https://orcid.org/0009-0009-7450-212X)
- Namik Kaya (ORCID: https://orcid.org/0000-0001-8912-7507)
- Aisha Alnafisah
Institutions
- Alfaisal University (SA)
- King Faisal Specialist Hospital & Research Centre (SA)
- King Saud University (SA)
- King Salman Center for Disability Research (SA)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2025-08-08
- DOI
- https://doi.org/10.1186/s13023-025-03810-4
- Citations
- 2
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 3.63
Funders
- King Salman Center for Disability Research