Mutations in the protein WD repeat structural domain 26 (WDR26, MIM 617424) have been identified as the cause of autosomal dominant Skraban-Deardorff syndrome, a rare genetic disorder characterised by intellectual disability (ID), developmental delay (DD), hypotonia, epilepsy, infant feeding difficulties, gait abnormalities and distinctive facial features.
More...Mutations in the protein WD repeat structural domain 26 (WDR26, MIM 617424) have been identified as the cause of autosomal dominant Skraban-Deardorff syndrome, a rare genetic disorder characterised by intellectual disability (ID), developmental delay (DD), hypotonia, epilepsy, infant feeding difficulties, gait abnormalities and distinctive facial features. The objective of this study is to investigate the genetic factors that may contribute to the development of Skraban-Deardorff syndrome in affected individuals.
Less...| Accession | PRJNA1105466 |
| Data Type | Raw sequence reads |
| Scope | Multispecies |
| Submission | Registration date: 28-Apr-2024
Genetic and Metabolic Central Laboratory, Guangxi Maternal and Child Health Hospital |
Project Data:
| Resource Name | Number
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| BioSample | 2 |
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