Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
---|---|---|---|---|
11q13.4 | 3-methylglutaconic aciduria, type VIIA, autosomal dominant | 619835 | AD | 3 |
3-methylglutaconic aciduria, type VIIB, autosomal recessive | 616271 | AR | 3 | |
Neutropenia, severe congenital, 9, autosomal dominant | 619813 | AD | 3 |
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Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
---|---|---|---|---|---|---|
11q13.4 | 3-methylglutaconic aciduria, type VIIB, autosomal recessive | 616271 | AR | 3 | CLPB | 616254 |
Location | Phenotype | Inheritance |
Phenotype mapping key |
Phenotype MIM number |
Gene/Locus |
Gene/Locus MIM number |
---|---|---|---|---|---|---|
2p13.1 | 3-methylglutaconic aciduria, type VIII | AR | 3 | 617248 | HTRA2 | 606441 |
3q26.33 | 3-methylglutaconic aciduria, type V | AR | 3 | 610198 | DNAJC19 | 608977 |
6q25.3 | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | AR | 3 | 614739 | SERAC1 | 614725 |
9q22.31 | 3-methylglutaconic aciduria, type I | AR | 3 | 250950 | AUH | 600529 |
11q13.4 | 3-methylglutaconic aciduria, type VIIB, autosomal recessive | AR | 3 | 616271 | CLPB | 616254 |
19q13.2 | 3-methylglutaconic aciduria, type IX | AR | 3 | 617698 | TIMM50 | 607381 |
19q13.32 | 3-methylglutaconic aciduria, type III | AR | 3 | 258501 | OPA3 | 606580 |
Xq28 | Barth syndrome | XLR | 3 | 302060 | TAFAZZIN | 300394 |
Not Mapped | 3-methylglutaconic aciduria, type IV | AR | 250951 | MGCA1 | 250951 |
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