X-linked Intellectual Disability, Van Esch Type(Van Esch-O'Driscoll syndrome)
An X-linked recessive mode(s) within the Multisystemic disorders category
Candidate Gene Information
An X-linked recessive mode(s) within the Multisystemic 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 | POLA1/5422 | DNA polymerase alpha 1, catalytic subunit | Xp22.11 | ChrX, NC_000023.11 (24693918..24996986) |
303069 nt | 44 | 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