3-Methylglutaconic Aciduria Type 2(Barth syndrome) Explore Disorder's Alias
An X-linked dominant mode(s) within the Metabolic disorders category
Candidate Gene Information
An X-linked dominant mode(s) within the Metabolic 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 | TAFAZZIN/6901 | tafazzin, phospholipid-lysophospholipid transacylase | Xq28 | ChrX, NC_000023.11 (154411539..154421726) |
10188 nt | 12 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities