AHDC1-related Intellectual Disability - Obstructive Sleep Apnea - Mild Dysmorphism Syndrome(Xia-Gibbs syndrome)
An Autosomal dominant mode(s) within the Multisystemic disorders category
Candidate Gene Information
An Autosomal dominant 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 | AHDC1/27245 | AT-hook DNA binding motif containing 1 | 1p36.11 | Chr1, NC_000001.11 (27534245..27604227, complement) |
69983 nt | 15 | 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