Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
---|---|---|---|---|
19q12 | ?Spastic paraplegia 43, autosomal recessive | 615043 | AR | 3 |
Neurodegeneration with brain iron accumulation 4 | 614298 | AD, AR | 3 |
|
|
|
|
|
|
|
Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
---|---|---|---|---|---|---|
19q12 | Neurodegeneration with brain iron accumulation 4 | 614298 | AD, AR | 3 | C19orf12 | 614297 |
Location | Phenotype | Inheritance |
Phenotype mapping key |
Phenotype MIM number |
Gene/Locus |
Gene/Locus MIM number |
---|---|---|---|---|---|---|
6q24.1 | ?Neurodegeneration with brain iron accumulation 7 | AR | 3 | 617916 | REPS1 | 614825 |
9q34.11 | ?Neurodegeneration with brain iron accumulation 8 | AR | 3 | 617917 | CRAT | 600184 |
11q12.3 | Neurodegeneration with brain iron accumulation 9 | AD | 3 | 620669 | FTH1 | 134770 |
17q21.2 | Neurodegeneration with brain iron accumulation 6 | AR | 3 | 615643 | COASY | 609855 |
19q12 | Neurodegeneration with brain iron accumulation 4 | AD, AR | 3 | 614298 | C19orf12 | 614297 |
19q13.33 | Neurodegeneration with brain iron accumulation 3 | AD | 3 | 606159 | FTL | 134790 |
20p13 | Neurodegeneration with brain iron accumulation 1 | AR | 3 | 234200 | PANK2 | 606157 |
22q13.1 | Infantile neuroaxonal dystrophy 1 | AR | 3 | 256600 | PLA2G6 | 603604 |
22q13.1 | Neurodegeneration with brain iron accumulation 2B | AR | 3 | 610217 | PLA2G6 | 603604 |
Xp11.23 | Neurodegeneration with brain iron accumulation 5 | XLD | 3 | 300894 | WDR45 | 300526 |
|
|
|
|
Dear OMIM User,
To ensure long-term funding for the OMIM project, we have diversified our revenue stream. We are determined to keep this website freely accessible. Unfortunately, it is not free to produce. Expert curators review the literature and organize it to facilitate your work. Over 90% of the OMIM's operating expenses go to salary support for MD and PhD science writers and biocurators. Please join your colleagues by making a donation now and again in the future. Donations are an important component of our efforts to ensure long-term funding to provide you the information that you need at your fingertips.
Thank you in advance for your generous support,
Ada Hamosh, MD, MPH
Scientific Director, OMIM