Amelogenesis Imperfecta Hypomaturation Type 2A3(Amelogenesis imperfecta, hypomaturation type, IIA3)
An Autosomal recessive mode(s) within the Oral disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Oral 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 | WDR72/256764 | WD repeat domain 72 | 15q21.3 | Chr15, NC_000015.10 (53513741..53762878, complement) |
249138 nt | 25 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information Highlighted rows indicate variants are reported from India | ||||||||
| Disorder Cross-References: Orphanet OMIM GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities