Skraban-Deardorff Syndrome(Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome)
An Autosomal dominant mode(s) within the Neurodevelopmental disorders category
Candidate Gene Information
An Autosomal dominant mode(s) within the Neurodevelopmental disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | WDR26/80232 | WD repeat domain 26 | 1q42.12 | Chr1, NC_000001.11 (224385146..224434797, complement) |
49652 nt | 14 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | WDR62/284403 | WD repeat domain 62 | 19q13.12 | Chr19, NC_000019.10 (36054897..36111145) |
56249 nt | 35 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities